Appendix A: Organisation of a Craniofacial Unit

The requirements of patients with craniofacial abnormalities are very complex and demand a multidisciplinary approach. Many body systems are affected, and every detail of patient management has to be given due attention. Care begins at birth and continues until the patient and his family have been relieved of the burden of the anomaly. A team is needed, capable of delivering expert patient care, and representative of all the relevant disciplines. Data, in the form of histories, physical examinations, and special investigations, are needed in planning treatment, and such data should be used to the maximum scientific effect, to improve present methods of management, still far from satisfactory, and to expand knowledge of the biology of cranial growth and its disorders.

Craniofacial Units

Sporadic craniofacial procedures performed by a surgeon on an irregular basis invite disaster. Tessier (1971a) estimated that each craniofacial centre should serve a population of 10 to 20 million people, provided that the team performed only craniofacial surgery and treated at least 50 new cases annually. As a consequence of Tessier's example and teaching there are now centres of acknowledged excellence in Paris and Nancy, attracting patients not only from France but also from North Africa and elsewhere. In North America there are now important craniofacial centres in Philadelphia, New York, Boston, Toronto, and Mexico City. Munro (1975) proposed that North America should be divided into seven regions, six for the United States and one for Canada, each serving populations of 20 to 40 million people. He believed that such centres would allow a concentration of multidisciplinary skills and accumulation of experience in the treatment of craniofacial anomalies. This in turn would stimulate laboratory studies into the pathogenesis of craniofacial anomalies. The concept of regionalisation and rationalisation has now been accepted in many countries and has been given some authority by the U.S. National Institutes of Health, which have undertaken to fund only certain designated craniofacial centres. A more diffuse, but nevertheless important, role of the centralised service is to act as a focal point for the manipulation of public opinion towards a more humane attitude towards those people with severe craniofacial deformities. Most of these patients have normal intelligence and the potential for happy and useful lives-if they are not crushed by social ostracism or lifelong institutional care. ' In Australia, craniofacial surgery was begun in several widely separate cities. Independently, groups of enthusiasts in Adelaide (David 197:7) and Brisbane (Atkinson et al. 1979) trained themselves in this very exacting field and undertook to see and to treat patients referred from other specialists in Australia, New Zealand, and South-East Asia. We describe in this section the organisation of the South Australian Craniofacial Unit, as it has evolved since it was established in 1975. The Team 297

The Team

The following disciplines are represented: plastic surgery, neurosurgery, ear nose and throat surgery, ophthalmic surgery, medical genetics, neuroradiology, anaesthetics, psychiatry, orthodontics, dentistry, oral and maxillofacial surgery, prosthodontics, speech pathology, nursing, social work, photography, and administration. With such a large and sometimes temperamental cast of actors, there is need for co-ordination at all stages. This is done by the head of the team assisted by the craniofacial registrar, who is usually a surgical or scientific trainee. The unit secretaries play indispensable administrative parts. The anaesthetists are also concerned in co-ordination, especially in the preoperative assessments. Some of these, such as fundoscopy and blood-taking, are distressing for children and can be done during the anaesthetic procedures needed for X-ray investigations.

The Plastic Surgeon

The plastic surgeon is the head of the team and assumes responsibility for patient care. Special training in neurosurgery, orthopaedic surgery, and maxillofacial surgery is recommended. It has been suggested that craniofacial surgery should become a separate speciality '(Munro 1975). At the time when this was first mooted, it was probably an extreme point of view; however, with the emergence of many excellent craniofacial units around the world and the related need for plastic surgeons who can devote the majority of their time to this particular sub speciality, Munro's proposal has much more validity. The plastic surgeon (craniofacial surgeon) must not only be able to perform the bone surgery, but also to correct the many difficult soft tissue problems associated with craniofacial deformities.

The Neurosurgeon

It is important that the neurosurgeon's role be seen as an extension of his established role in the correction of the calvarial deformities resulting from craniosynostosis. The neurosurgeon has to assess the various neurological dangers inherent in each type of craniofacial procedure and to give warning if unusual circumstances make these prohibitive. The neurosurgeon is responsible for the preoperative neurological assess• ment of the patient, and he is the operative partner when the transcranial approach is used for the exposure of the anterior cranial fossa. A high degree of co-operation is required throughout these procedures, with a blending of the techniques of plastic surgery and neurosurgery. The neurosurgeon is responsible for postoperative supervision when there is any risk of intracranial bleeding, infection, or visual loss.

The Anaesthetist

The importance of the anaesthetist's role is highlighted by the fact that craniofacial operations may last 10 h or more, and are performed on patients whose ages range from infancy to middle age. Large blood replacements are frequently necessary. Because of this, all craniofacial procedures should be administered by the same anaesthetic team so that experience in this exacting work is built up. Intubation and airway maintenance may be difficult because of associated upper airway stenosis and 298 Appendix A Organisation of a Craniofacial Unit jaw anomalies. The anaesthetist is also responsible for the immediate postopera1ive management in the intensive care unit. Two anaesthetic teams work with the South Australian Craniofacial Unit, one for children and one for adults.

The Ophthalmologist and the Orthoptist

The concept of craniofacial surgery is largely based on the fact that the orbits can be safely moved in three dimensions. Detailed preoperative and postoperative examination by the neuro-ophthalmologist and by the orthoptist are essential. The measurements detailed on p. 77 are necessary in operative planning. Examination of visual acuity, visual fields, binocular vision, eye positions, muscle function and fundoscopy are of obvious importance. If any ophthalmological complications arise, then the ophthalmologist must diagnose and be directly involved in their treatment. New methods ofcomputerised monitoring of vision are very promising, but they are no substitute for careful clinical examination before and after operation.

The ENT Surgeon

Each patient is examined to exclude aural disease or malformation. Faciostenosis frequently causes abnormalities in the physiology of the nasal airways and paranasal sinuses which should be assessed and managed by the ENT surgeon.

The Geneticist

Because. so many of the craniosynostoses and craniosynostosis syndromes have a genetic background, the involvement of the medical geneticist in diagnosis aad subsequent counselling is of the utmost importance. The genetic evaluation includes a detailed family and pregnancy history including questions about environmental and medical agents and teratogens. Recording of this information for the description of syndromes is also important.

The Orthodontist, Dentist, and Oral Surgeon

The dental specialists are involved in the planning procedures. They attend to dental hygiene, make the dental casts and the cephalometric tracings. In the preoperative period they apply the orthodontic appliances for intermaxillary fixation. The orthodontist collects baseline cephalometric data for longitudinal facial growth studies in the various areas of craniofacial deformity, and is also involved in the management of such residual dental problems as are amenable to treatment by orthodontic techniques.

The Prosthodontist and the Maxillofacial Technician

The prosthodontist fashions prosthetic appliances for patients with jaw anomalies when these are required and also makes splints for those edentulous patients who may require intermaxillary fixation. A specialist maxillofacial technician has been trained The Team 299 to make facial and cranial moulages, to cut and mount the dental casts, and to fashion the cast metal splints used in intermaxillary fixation. He is also occasionally asked to make artificial eyes and ears.

The Radiologist

The radiologist is responsible for making and interpreting the X-ray investigations discussed in Chap. 7. Routine skull radiographs are always examined as a first step. Three-dimensional tomography of the orbits and skull base is usually needed, and its interpretation needs much experience. Computerised axial tomography is becoming a routine requirement. The standard lateral and anteroposterior skull films taken on a cephalostat are used for operative planning and to plot growth up till the time of surgery, and after operation till stability has been achieved.

The Pyschosocial Team

This consists of a psychiatrist and two social workers, one for the adults and one for the children. Their roles have been discussed in Chap. 18. Psychosocial assessment has become one of the most important aspects of the craniofacial service. An assessment of the patient's intelligence should be made before operation. A thorough knowledge of the patient and his environment is needed to judge the utility of surgery and as a baseline for subsequent follow-up. The social workers act as the initial patient contact and prepare the first report and recommend whether the patient should proceed to psychiatric assessment. They also attempt to solve any social, financial or insurance problems for the patients and their families. The psychosocial team is heavily involved in assessment of the psychological suitability for surgery and in preoperative counselling, which may include the whole family unit. They help to organise play therapy for children to familiarise them with the details of surgery, and they are concerned in postoperative psychosocial rehabilitation. The psychiatrist serves in two capacities. As a consultant he attends assessment meetings, where he appraises the reports of the social workers and other team members. He is also, in selected cases, engaged as a therapist, especially when family therapy is recommended.

The Speech Pathologist

Surgery for deformity of the midface frequently involves sagittal displacement of the bones. This is likely to change the relationship of the components of the velopharyngeal sphincter. Patients with distorted maxillae will have complex speech problems relating to the abnormal anatomy and the consequent functional derangements. Preoperative assessment involves an interview, speech recording, nasendoscopy and cine fluoroscopy. These procedures are synchronously recorded in each patient for future comparison, and are repeated after operation. Middle and inner ear diseases are seen in many of the severe craniofacial deformities anti necessitate a very close relationship between the speech pathologist, the ENT surgeon, and the craniofacial surgeon. Final correction of speech is often possible only after radical surgery, together with attention to the nasal airway, velopharyngeal competence, and dentition. 300 Appendix A Organisation of a Craniofacial Unit

Clinical Photography and Medical Television Team

Photographic records are an essential part of the data collected by the craniofacial unit. The clinical photographer plays a vital role in producing transparent life-size photographs for surgical planning. The medical television unit produces tapes showing nasendoscopy of the velopharyngeal sphincter synchronised with lateral cine fluoroscopy and sound recordings for each patient with a possible speech problem. They are also involved in making teaching material for medical, paramedical, and lay audiences.

Peripheral Team

Whilst the above-mentioned specialists may be considered as the core of the craniofacial team, there are many other people involved. As part of each ENT assessment, each patient is seen by the audiologist for an audiological assessment. The haematological status of the patient is emerging as one of the significant factors in determining the operative risks. Many patients with craniosynostosis syndromes appear to have problems in haemostasis. Nose, throat and conjunctival swabs are routinely cultured in an effort to build up a picture of the normal microbiological flora of these body. surfaces and cavities, and also as a baseline for possible antibiotic treatment of future infections. The histopathologist is involved in those cases of craniosynostosis where pathological suture material can be biopsied. And finally, nothing can be achieved without good nursing. Several members of the nursing staff have trained themselves to become specialists in dealing with craniofacial patients. It is essential to have highly skilled teams of operating theatre nurses who are familiar with these long and difficult procedures. Time is crucial, and ~fficient theatre nursing staff will keep operating time to a minimum without sacrificing safety. The patients and their families, who face the daunting ordeal of craniofacial surgery, often require very special sympathetic attention and it is important to have in the wards, and in the intensive care unit, nursing staff specifically trained so as to be aware of the problems associated with facial deformity.

Physical Structure

Ideally, the crani0facial unit should be centered in a large teaching hospital with all appropriate facilities. If the hospital caters for both adult and paediatric patients so much the better. However, this is often not the case. Ideally, all the disciplines involved in the craniofacial unit should be available in the hospital in which the unit is centralised. Such a situation is unobtainable in many centres. Where specialists from other hospitals have to be involved in the craniofacial unit, then facilities should be made available for them to have easy access to the institution. Such a concept involves an organisation which transcends the ordinary hospital staff system. The South Australian Craniofacial Unit is situated in the Adelaide Children's Hospital and operates on children in that institution. Adults undergo surgery at the Royal Adelaide Hospital, a large teaching hospital which is only a short distance away. Patients of all ages are assessed in the Children's Hospital, and the Craniofacial Unit has the capacity to draw staff from any of the health institutions in South Australia. This is an acceptable and workable compromise. To function efficiently a craniofacial Planning Meeting 301

unit needs to be organised in one area of the hospital, so that the administrative centre < of the unit and the outpatient facilities are closely related. It is preferable that this area should also be closely related to the operating theatres, X-ray department, photography department and ward. A multidisciplinary craniofacial clinic meeting is the hub of the Unit's activities. Discussions at these meetings crystallise as decisions on patient care. The unit must contain adequate facilities for such multidisciplinary meetings.

Processing of Patients

The sources of patient referral vary greatly. Patients may be referred from general practitioners or from other specialists in the community, or they may come after referral has been initially made to various individual members of the team in their capacity as experts in their own disciplines. In all cases, initial contact is followed by an interview with the plastic surgeon and a decision is made concerning the suitability of the patient for assessment by the Craniofacial Unit. Once this decision has been made, the patient is then seen by the various members of the team in such sequence as will allow each discipline the maximum amount of information. Thus radiology is performed before the neurological assessment and the social work assessment precedes the psychiatric interview. When all the information has been gathered, the patient and/or parents attend the assessment meeting.

Assessment Meeting

This is held at regular intervals in the Craniofacial Unit. A special room has been set aside in which there is a large table where the members of the team can sit. Radiological and video tape facilities are available. The format of the meeting follows a regular pattern. The Unit Registrar reads out a short history and summarises the physical examination of the patient, then each member of the team presents his individual report, after which a certain amount of discussion follows. The patient then comes into the meeting and any relevant matters are discussed with the patient. After the patient has left, final decisions are made concerning a definitive treatment plan. This is communicated to the patient by the Head of the Unit at a later date.

Planning Meeting

In addition to the assessment meeting, there is a planning meeting for the designing of surgical procedures. Once the decision for surgery has been made, the plastic surgepn, neurosurgeon, orthodontist, and radiologist meet to design the surgical procedure. They have with them information gained from the examination of the patient, transparent photographs, radiographs, cephalograms, and dental casts. The Unit maxillofacial technician is also present at these meetings to help with the technicalities of splint design and manufacture. An exact operation protocol is planned for each patient and this is sent to all relevant people, including the operating theatre staff, before operation. 302 Appendix A Organisation of a Craniofacial Unit

Patient Follow-up

The importance of longitudinal studies in patients suffering from craniofacial deformities and in patients who have undergone surgery during or after completion of their growth, cannot be over-emphasized. The strength of the centralised unit is the collection ofdata in a single place, but one ofthe weaknesses ofsuch a unit is the difficulty in collecting data from patients scattered over a wide geographical area. Where there is good rapport with referring doctors and governmental aid to fund transport across state and national boundaries, these problems are minimised. Whilst the collection of data for longitudinal studies is of tremendous importance, it is secondary to the needs of individuals and the ultimate desire for the facially deformed patient to be rehabilitated and returned to a normal life. Sometimes consideration for the patient's welfare or peace of mind prevents the completion oflong-term follow-up assessments and radiological examinations.

Data Collection, Analysis, and Research

Data obtained on new and old patients need to be stored so that they are easily retrievable and periodically subject to analysis. This helps the members of the Unit to assess their tecHnical results. Further, by compiling research data, we hope to gain a fuller understanding of the pathological processes involved. It is natural that research activities should then extend into the field of animal studies. Our experimental primate studies, now being undertaken by the South Australian Craniofacial Unit in conjunction with the Commonwealth Scientific and Industrial Research Organisation, exemplify the scientific arm of a craniofacial unit.

Education

A properly functioning craniofacial unit should teach. The field is too narrow and too specialised to be of much value in the undergraduate medical course, but we believe that trainees in plastic surgery, neurosurgery, and anaesthesia should be given some experience in craniofacial surgery. The operative techniques are of great relevance in the management of severe maxillofacial injuries and in orbital surgery generally. So far the South Australian Craniofacial Unit has not gone beyond this to offer a formal training program in the subspeciality of craniofacial surgery. But the need for this may well arise. To ensure that craniofacial units remain viable and do not depend exclusively on one enthusiast, there must be a small international cadre of experienced specialists in this field. And new recruits must be trained. Finally, as has been urged elsewhere in this book, a craniofacial unit can educate the community which it serves towards acceptance of the facially disfigured. This can be attempted in schools and through the media. The dramatic character of craniofacial operations naturally arouses public interest and this can be used beneficially,in the struggle against age-old human prejudices. The South Australian Craniofacial Unit has been fortunate in its relations with the media, and some useful educational programs have appeared. But community attitudes to deformity are very deeply rooted and there is still much to be done. Appendix B: Syndromes Associated with Craniosynostosis

Frequency of Aetiology Syndrome Striking features craniosynostosis

Chromosomal syndromes lq- syndrome Brachycephaly, facial asymmetry, ? Deletion of long arm (Falk et al. 1977) shallow orbits, small pinched nose, of chromosome 1 small low-set ears, short neck, narrow shoulders, broad proximally placed thumbs, clinodactyly, growth deficiency, mental deficiency; phenotype not completely delineated at present 3q + syndrome Growth deficiency, mental 5/12 Duplication of part of (Wilson et al. 1978) deficiency, oxycephaly, low the long arm of hairline, ocular anomalies, chromosome 3 anteverted nostrils, cleft palate, micrognathia, omphalocele, cryptorchidism, talipes equinovarus 5p - syndrome Variable CNS anomalies, ? Trisomy for most of the (Opitz and Patau 1975) dolichocephaly, craniosynostosis, short arm of mental deficiency, respiratory chromosome 5 difficulties, renal/ureteral malformations, short great toes; phenotype not completely delineated at present 6q + syndrome Acrocephaly, ocular hyper- 2/6 Trisomy for part of (Robertson et al. 1975) telorism, low-set ears, micrognathia, the long arm of bow-shaped mouth, cleft lip, cleft chromosome 6 palate, mental deficiency 7p - syndrome Craniosynostosis and variable Apparently Deletion of short arm (McPherson et al. 1976) anomalies including turricephaly common of chromosome 7 and hypotelorism; phenotype not completely delineated at present 7p + syndrome Arachnodactyly, club-foot, hip ? Trisomy for short arm (J. Wilner, personal dislocation, choanal atresia; of chromosome 7 communication a) phenotype not completely delineated at present 9p - syndrome Craniosynostosis, trigonocephaly, Common Deletwn of short arm (Alfi et al. 1976) high forehead, fiat auricles, of chromosome 9 pointed eyebrows, upslanting palpebral fissures, epicanthal folds, short nose, long upper lip, aplastic philtrum, micrognathia, 304 Appendix B Syndromes Associated with Craniosynostosis

Frequency of Syndrome Striking features Aetiology craniosynostosis

short neck, elongated thorax, widely spaced nipples, long fingers, hyperconvex fingernails 11 q - syndrome Growth deficiency, mental Common Deletion of long arm (Cassidy et aI. 1977) deficiency, trigonocephaly, of chromosome II upslanting palpebral fissures, epicanthal folds, broad flat nasal bridge, low-set ears, micrognathia, single palmar crease, congenital heart defect 12p - syndrome Microcephaly, narrow forehead, 1/6 Deletion of short arm (Orye and Craen 1975) protruding occipital bone, low-set of chromosome 12 ears, hypoplastic antihelices, highly arched eyebrows, down- slanting palpebral fissures, pointed nasal tip, hypoplastic metacarpals and metatarsals 13q - syndrome Microcephaly, lobar holopros- 8/44 Deletion oflong arm (Orbeli et al. 1971) encephaly, trigonocephaly, cranio- of chromosome 13 synostosis, mental deficiency, microphthalmia, iris coloboma, retinoblastoma, malformed ears, micrognathia, hypoplastic thumbs, imperforate anus, hypospadias, cryptorchidism, congenital heart defects Triploidy Growth deficiency, enlarged Uncommon Triploid genotype (Saath et al. 1976) posterior fontanelle, facial asymmetry, ocular hypertelorism, vertically ovoid corneas, colobomas, cleft lip/palate, micrognathia, low-set ears, syndactyly of 2nd and 3rd fingers, simian creases, congenital heart defects especially atrial septal defect and patent ductus arteriosus, hypoplastic kidneys, hypoplastic adrenals, genital anomalies

Monogenic Syndromes Apert syndrome Craniosynostosis, proptosis, Almost all Autosomal dominant (Apert 1906; down-slanting palpebral fissures, cases Cohen 1975) strabismus, ocular hypertelorism, mid face deficiency, highly arched palate, complete symmetric syndactyly of hands and feet involving at least digits 2-4 Armendares syndrome Craniosynostosis, microcephaly, Apparently P};obably autosomal (Armendares et al. 1974) retinitis pigmentosa, ptosis of common or X -linked recessive eyelids, malformed ears, micrognathia, highly arched palate, c1inodactyly, simian creases, short stature Appendix B Syndromes Associated with Craniosynostosis 305

Frequency of Striking features Aetiology Syndrome craniosynostosis

Baller-Gerold syndrome Craniosynostosis, radial aplasia, Apparently Probably autosomal (Cohen 1975; Feingold et absent or hypoplastic carpal common recessive al. 1979) bones and preaxial digits Berant syndrome Craniosynostosis involving Apparently Probably autosomal (Berant and Berant 1973) sagittal suture, radio-ulnar common dominant synostosis Carpenter syndrome Craniosynostosis, mental All reported Autosomal recessive (Carpenter 1909; Tentamy deficiency, preaxial polysyndactyly cases 1966) of feet, variable soft tissue syndactyly with brachymeso- phalangy of hands, displacement of patellae, genua valga, congenital heart defects, short stature, obesity Christian syndrome I Craniosynostosis, microcephaly, Apparently Autosomal recessive (Christian et al. 1971; ocular hypertelorism, down- common Fitch and Levy 1975) slanting palpebral fissures, cleft palate, arthrogryposis Christian syndrome Ir (JC Craniosynostosis involving Apparently X-linked semi- Christian, personal metopic suture, ocular common dominant communication) hypertelorism, epicanthal folds, down-slanting palpebral fissures, C2-3 fusion, hemivertebrae, anomalous ears, clinodactyly, simian creases, foot abduction, imperforate anus, short stature Cohen craniosynostosis Brachycephaly, craniosynostosis, Common Dominantly inherited. syndrome or cranio- ocular hypertelorism, clefting of Autosomal or X- frontonasal dysplasia the nasal tip, skeletal anomalies, linked? (Cohen 1979) various abnormalities of hands and feet Craniofacial dyssynostosis Craniosynostosis involving All known ? Autosomal recessive (Neuhiiuser et al. 1976) lambdoid and posterior sagittal cases sutures and variably the coronal suture, prominent forehead, ocular hypertelorism, frequent Spanish ancestry Crouzon syndrome Craniosynostosis, shallow orbits Almost all Autosomal dominant (Crouzon 1912; Cohen with proptosis, strabismus, cases 1975; Kreiborg 1981) midface deficiency, calcified stylo- hyoid ligaments, vertebral fusions Escobar-Bixler syndrome Craniosynostosis with phenotypic Common Autosomal dominant (Escobar and Bixler 1977) features varying from Saethre- Chotzen-like, Pfeiffer-like, and Crouzon-variant-like, to Apert- like syndrome. No tarsal fusions in minimally affected individuals Elejalde syndrome Craniosynostosis, swollen face, Apparently AutOilomal recessive (Elejalde et al. 1977) epicanthic folds, ocular common hypertelorism, hypoplastic nose, malformed ears, redundant neck tissue, gigantism at birth, short limbs, polydactyly, omphalocele, 306 Appendix B Syndromes Associated with Craniosynostosis

Frequency of Syndrome Striking features Aetiology craniosynostosis

lung hypoplasia, cystic renal dysplasia, sponge kidney, redundant connective tissue in skin and many viscera, proliferation of perivascular nerve fibres FG syndrome Variable growth problems, Apparently X-linked (Opitz and Kaveggia 1974) disproportionately large head uncommon circumference, mental deficiency, congenital hypotonia, high narrow palate, imperforate anus, sacral dimple, partial 2-3 syndactyly of feet, various other findings including craniosynostosis and frontal bossing Gorlin-Chaudhry-Moss Craniosynostosis, midface Apparently Probably autosomal syndrome (Gorlin et al. deficiency, hypertrichosis, down- common recessive 1960) slanting palpebral fissures, upper eyelid colobomas, patent ductus arteriosus, hypoplastic labia majora Hootnick-Holmes Frontal bossing, dolichocephaly, ? Probably autosomal syndrome (Hootnick and craniosynostosis involving sagittal dominant Holmes 1972) suture, ocular hypertelorism, strabismus, preaxial and postaxial polysyndactyly of hands, preaxial polysyndactyly of feet Jackson-Weiss syndrome Craniosynostosis with Pfeiffer-like, Common Autosomal dominant (Jackson et al. 1976) Saethre-Chotzen-like and Crouzon- variant-like phenotype. Minimal manifestation consists of broad 1st metatarsals and fused tarsal bones. Pfeiffer-like thumbs not observed. Apert-like phenotype not observed Jones syndrome (KL Craniosynostosis and Dandy- ? Dominant. Autosomal Jones, personal' Walker malformation or X-linked? communicationa) Lowry syndrome Craniosynostosis, prominent eyes, Apparently Probably autosomal (Lowry 1972) strabismus, highly arched or cleft common recessive palate, fibular aplasia, talipes equinovarus, simian creases Pfeiffer syndrome Craniosynostosis, proptosis, All known Autosomal dominant (pfeiffer 1964; strabismus, ocular hypertelorism, cases Cohen 1975) down-slanting palpebral fissures, midface deficiency, broad thumbs and great toes, mild cutaneous syndactyly of fingers and toes (variable) Saethre-Chotzen syndrome Craniosynostosis, facial All known Abrachydactyly and cutaneous Appendix B Syndromes Associated with Craniosynostosis 307

Frequency of Syndrome Striking features Aetiology craniosynostosis

syndactyly especially of 2nd and 3rd fingers, normal thumbs and great toes San Francisco syndrome Craniosynostosis, midface Common Autosomal dominant (BD Hall, personal hypoplasia, ptosis of the eyelids, communicationa) bulbous nose, small ears

Seckel syndrome Bird-headed dwarfism, micro- Apparently Probably autosomal (Seckel 1960; cephaly, mental retardation, common recessive Campbell 1971) kyphoscoliosis

Sensenbrennersyndrome Dolichocephaly, sagittal Common Autosomal recessive (Levin et al. 1977) synostosis, frontal bossing, epicanthal folds, anteverted nares, everted lower lip, sparse slow- growing hair, microdontia, hypodontia, brachydactyly, soft tissue syndactyly of fingers and toes, clinodactyly, short narrow thorax, pectus excavatum, short limbs Summitt syndrome Craniosynostosis, strabismus, Apparently Probably autosomal (Summitt 1969; variable symmetric syndactyly of common recessive Sells et al. 1977) hands and feet from partial to complete with clinodactyly, normal-sized thumbs and great toes, genua valga, obesity Ventruto syndrome Craniosynostosis, brachydactyly, Common Autosomal dominant (Ventruto et al. 1976) absence of some middle or distal phalanges, aplastic or hypoplastic nails, symphalangism, synostosis of some carpal and tarsal bones, hip dysplasia, pes planus Washington syndrome I Craniosynostosis involving the Apparently Probably autosomal (unpublished data) sagittal suture, short 4th and 5th . common recessive metacarpals Washington syndrome II Craniosynostosis, midface Apparently Probably autosomal (unpublished data) hypoplasia, lack of extension of common recessive the distal interphalangeal joints

Teratogenically induced syndromes Aminopterin syndrome Craniosynostosis, hypoplasia of Apparently Aminopterin or (Shaw and Steinbach 1968) cranial and facial bones, low-set common methotrexate during ears, cleft palate, micrognathia, pregnancy hypodactyly of feet, mild syndactyly of hands Fetal hydantoin syndrome Growth deficiency, mental 3/44 Prenatal exposure to (F Char, personal deficiency, microcephaly, short hydahtoins communicationa) nose, broad depressed nasal bridge, epicanthal folds, mild hypertelorism, ptosis of the eyelids, strabismus, sutural 308 Appendix B Syndromes Associated with Craniosynostosis

Frequency of Syndrome Striking features Aetiology craniosynostosis

ridging, hypoplasia of nails and distal phalanges, cardiac anomalies, umbilical hernia

Unknown genesis syndromes Antley-Bixler syndrome Trapezoidocephaly, deformed ears ? ? (Antley and Bixler 1975) and nose, elongated hands and feet, radiohumeral synostosis, digit contractures Campomelic syndrome Dwarfism with bowed, short wide ? (craniosynostotic type) femurs, smooth flared metaphyses, (Khajavi et al. 1976) vertical rectangular ischia, normal hips, advanced epiphyseal ossification, craniosynostosis Fairbanks syndrome Craniosynostosis, proptosis, short ? ? (unpublished data) stature, brachydactyly, failure of (Fairbanks 1951; Keats et tooth eruption al. 1975)

Hall syndrome Craniosynostosis and Turner-like ? ? (JG Hall, personal phenotype communicationa)

Hausam syndrome Craniosynostosis, asynunetric ? ? (unpublished data) craniofacies, flat forehead, ocular proptosis, low-set posterior hairline, cleft palate, contractures at elbows and knees, plantar furrows, absent thumbs, absence of some middle phalanges, imperforate anus, sudden infant death syndrome Herrman syndrome I Craniosynostosis, mental ? ? (Herrman and Opitz 1969) deficiency, hypoplastic supraorbital ridges, bitemporal flattening, ocular hypertelorism, ear anomalies, micrognathia, partial soft tissue syndactyly of fingers 2-4, absent toes Herrmann syndrome II Craniosynostosis, ? ? (Herrmann et al. 1969; microbrachycephaly, mental Ladda et al. 1979) deficiency, anomalous ears, cleft lip/palate, symmetric limb reduction defects with absent fingers 4 and 5, short forearms, valgus positioning of hands, ankylosis at knees, varus positioning of feet Idaho syndrome I Craniosynostosis, scaphocephaly, ? ? (Cohen 1977) strabismus, mental deficiency, congenital heart defect, umbilical hernia, complete anterior dislocation of tibia and fibula, Appendix B Syndromes Associated with Craniosynostosis 309

Frequency of Syndrome Striking features Aetiology craniosynostosis

talipes equinovarus, camptodactyly of fingers 2-5, deviation of fingers to ulnar side, proximally placed thumbs Idaho syndrome II Craniosynostosis, scaphocephaly, ? ? (Cohen 1977) mental deficiency, down-slanting palpebral fissures, beaked nose, micrognathia, small low-set posteriorly angulated ears, pre• auricular tags, long neck, sloping shoulders, narrow thorax, pectus carinatum, winging of scapulae, cubitus valgus Lacheretz-Allain syndrome Craniosynostosis, radiohumeral ? ? (Lacheretz et al. 1974; synostosis, fusion of cuboid and Allain et al. 1976) 3rd cuneiform, genital malformations Lowry-MacLean Microcephaly, craniosynostosis, ? ? syndrome (Lowry and seizures, prominent beaked nose, MacLean 1977) down-slanting palpebral fissures, proptosis, glaucoma, cleft palate, delayed dental development, atrial septal defect, eventration of the diaphragm, narrow hyperconvex fingernails McGillivray syndrome (BC Craniosynostosis, small down- ? ? McGillivray, personal slanting palpebral fissures, low-set communication8 ) posteriorly angulated abnormal ears, wide nose, cleft palate, micrognathia, 3-4 syndactyly of left hand, missing 3rd finger on right hand, increased arch patterns on fingers, limitation of extension at knees and ankles, patent ductus arteriosus, ventricular septal defect, ambiguous external genitalia, cryptorchidism Montefiore syndrome (RJ Craniosynostosis, proptosis, ? ? Shprintzen, personal Apert-like palate, micrognathia, communication8 ) abnormal ears, contractures of 5th fingers, clinodactyly of toes, arachnodactyly, diastasis recti, inguinal hernias, mitral valve prolapse, mental deficiency Pederson syndrome Craniosynostosis, exostoses of the ? ? (G Pederson, personal skull, epibulbar dermoids, communication8 ; Thanos premature exfoliation of deciduous et al. 1977) teeth, linear verrucous naevi of neck, scaly patches on hands Sakati syndrome Craniosynostosis, ? ? (Sakati et al. 1971) disproportionately small face, anomalous ears, patches of alopecia with atrophic skin, short limbs, polysyndactyly of feet, 310 Appendix B Syndromes Associated with Craniosynostosis

Frequency of Syndrome Striking features Aetiology craniosynostosis

polysyndactyly of hands, congenital heart defect Waardenburg Craniosynostosis, hydropthalmos, ? ? craniosynostosis syndrome down-slanting palpebral fissures, (Waardenburg 1934) cleft palate, micrognathia, low-set ears, malposed clavicles, contractures at elbows, and knees, soft tissue syndactyly of fingers 2-4, absent distal phalanx of thumb with absent nail, double nail with bifid terminal phalanx on 2nd fingers, clinodactyly of fingers 4 and 5, hammer-toes, ambiguous external genitalia, patent ductus arteriosus Wardinsky syndrome Craniosynostosis, microcephaly, ? ? (TD Wardinsky, personal microphthalmia, prominent nose communication") absent distal thumb crease, cryptorchidism Wisconsin syndr~me Craniosynostosis, mental ? ? (JM Opitz, personal deficiency, upslanting palpebral communication") fissures, microtia, short 4th metatarsals

"References to personal communications are cited by Cohen (1979). References

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Till KT (1975) Paediatric neurosurgery. Blackwell, Oxford Trauner R, Obwegeser HL (1957) The surgical treatment of mandibular prognathism and retrognathia with consideration of genioplasty I. Surgical procedures to correct mandibular prognathism and reshaping of the chin. Oral Surg 10: 677-689, 787-792, 899-909 Troitsky W (1932) Zur Frage der Formbildung des Schiideldaches. Z Morphol AnthropoI30:504-532 Tiinte W, Lenz W (1967) Zur Hiiufigkeit und Mutationsrate des Apert Syndroms. Humangenetik 4: 104-111 Turner PT, Reynolds AF (1980) Generous craniectomy for Kleeblattschiidel anomaly. Neurosurgery 6:555-558 Van der Werff MAJM (1966) Role dela dur-mere dans la reossification des breches de la voute cninienne. Neurochirurgie 12:524-527 Van Effenterre, Van Effenterre R, Houtteville J-P, Philippon J, Hom Y-E (1976) Interet de la mesure de la pressure intra-cranienne dans les craniostenoses decouvertes apres l'age d'un an. Neurochirurgie 22 :59-67 Van Limborgh J (1970) A new view on the control of the morphogenesis of the skull. Acta Morphol Neerl Scand 8: 143-160 Venes JL, Sayers MP (1976) Sagittal synostectomy. Technical note. J Neurosurg 44: 390--392 Ventruto V, Di Girolamo R, Festa B, Romano A, Sebastio G, Sebastio L (1976) Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis. J Med Genet 13: 394-398 Vilmann H (1971) The growth of the cranial base in the Wistar rat studied by vital staining with Alizarin red S. Acta Odontol Scand 21 [SuppI59]: 1-44 Virchow R (1851-1852) Uber den Cretinismus, namentlich in Franken, und iiber pathologische Schiidelformen. Verh Phys Med Ges Wurzburg 2:230--271 . Virchow R (1857) Untersuchungen iiber die Entwickelung der Schiidelgriibes im gesunden und krankhaften Zustande und iiber den Einfiuss derselben auf Schiidelform, Gesichtsbildung, und Gehirnbau, Georg Reimer, Berlin . Von Graefe A (1866) Dber Neuroretinitis und gewisse Faile fulminierender Erblindung. Albrecht von Graefes Arch Klin Ophthall2: 114-149 Vries JK, Becker DP, Young HF (1973) A subarachnoid screw for monitoring intracranial pressure. Technical note. J Neurosurg 39:416-419 Vulliamy DG, Normandale PA (1966) Craniofacial dysostosis in a Dorset family. Arch Dis Child 41 :375-382 Waardenburg PJ (1934) Eine merkwurdige Kombination von Missbildungen: doppelseitiger Hy• drophthalmus verbunden mit Akrokephalosyndaktylie, Herzfehler, Pseudohermaphroditismus und anderen Abweichungen. Klin Monatsbl Augenheilkd 92: 29-44 Walshe FB, Hoyt WF (1969) Clinical neuro-ophthalmology, vol l. Williams & Wilkins, Baltimore, p 702 Washburn SL (1946) The effect ofremoval of the zygomatic arch in the rat. J Mammal 27: 169-172 Wheaton SW (1894) Two specimens of congenital cranial deformity in infants associated with fusion of the fingers and toes. Trans Path Soc 45: 238-241 Whitaker LA, Schut L, Kerr LP (1977) Early surgery for isolated craniofacial dysostosis. Improvement and possible prevention of increasing deformity. Plast Recoust Surg 60: 575-581 Whitaker LA, Munro IR, Salyer KE, Jackson IT, Ortiz-Monasterio F, Marchac D (1979) Combined report of problems and complications in 793 craniofacial operations. Plast Recoustr Surg 64: 198-203 White J, Boldt D, David DJ, Sheffield D, Simpson D (1981) Carpenter syndrome with normal intelligence and precocious growth. Acta Neurochir 57: 43-49 Wilson GN, Hieber VC, Schmickel RD (1978) The association of chromosome 3 duplication and the Cornelia De Lange syndrome. J Pediatr 93: 783-788 Wood-Smith D, Epstein F, Morello D (1976) Transcranial decompression of the optic nerve in the osseous canal in Crouzon's disease. Clin Plast Surg 3:621-623 Zwilling E (1968) Morphogenetic phases in development. Dev Bioi Suppl 2:184-207 Subject Index

Achondroplasia 23, 50 sutures affected 202-203 Acrocephalopolysyndactyly (ACPS) 186,201 syndactyly 5,80,186,201-202,206--210,304 see also Carpenter syndrome, Noack syndrome treatment 210-211,239-254,257-279 Acrocephalosyndactyly (ACS) 186,201 Aqueduct stenosis 49-50, 85 see also Apert, Hootnick-Holmes, lackson• Asepsis see Operative procedures, asepsis Weiss, Pfeiffer, Saethre-Chotzen, Vogt and Asthma 74, 195 Waardenburg syndromes, also Craniosynos• Atlanto-axial dislocation 198 tosis syndromes Australian aborigines 54, 175 Acrocephaly, acrobrachycephaly III Aerocele 237, 285 Blepharophimosis 169, 212 Airway restriction 73-74, 193,236,241,283 Bone grafting Alloplastic materials see Polyethylene, Re- inlay 260, 263, 267, 273 generation of calvarial bone, Silastic, Titanium onlay 103, 164, 173 Amerindians 16,32,54, 165 resorption 288 Aminopterin 35, 227, 307 techniques and complications 274--275, 280, 288 Anaesthesia see Operative procedures, anaesthesia Bone growth see also Regeneration of bone Anticonvulsants apposition 13,15-17 postoperative 281 displacement 16, 27 teratogens 227, 307 drift 16, 27 Anus mechanisms 7-9, IS-17 atresia 304--306, 308 resorption 15 ectopia 144, 157, 159-160, 198 Brachycephaly 3, \09, 145, 188 Apert syndrome (acrocephalosyndactyly type I) Brain acne in 204--205 damage, operative 287 associated anomalies 206--208, 304 development and growth 64, 90 calvarial deformities 115, 142, 154, 186 relation to skull growth 9-12, 23-24, 26, 29 202-203 volume and weight 64 cephalic index 202, 211 Buccal approach see Operative procedures, cerebral pathology 49,205-206 incisions and approaches convolutional markings 69,206 cranial base 202-203 Calvaria cranial pathology 33, 202-203 deformities 3, 60, 81, 109-116 craniostenosis 206, 211 development and growth 8-13 dental abnormalities 204 functions V exophathalmos 71, 203 plaster casts, moulages 88, 91, 243, 299 facial appearances 203-205 sutures 17-21,42-47, 50-51,81-83 faciostenosis 52, 73-75, 186,203-204,239 Calvariectomy, total and subtotal familial incidence 41, 208 complications 101 genetics 186, 208, 304 in childhood 101 hearing loss 74, 79, 206 in infants 95 history 5, 202 indications 179 hydrocephalus 49, 66, 86, 205-206 Canthal dystopia 287-288 incidence 202 Canthopexy and canthoplasty 276--277, 288 mental retardation 61, 74, 204--206 Cardiac anomalies 144, 198,208,1219,221-222, natural history 209 242 orbitostenosis 70-71,203,211 Carlos II King of Spain 57, 75 papilloedema 206 Carpenter syndrome (acrocephalopolysyndactyly sex incidence 55 type II) speech disorders 204 associated anomalies 221, 305 324 Subject Index

calvarial defonnities III, 117, 137, 140, 186,219 incisions and approaches craniostenosis 220 Convolutional markings see also Crouzon synd• exophthalmos 71, 220 rome, Oxycephaly etc. 48, 67-70, 83, 90 facial appearances 220 Coronal suture see also Turricephaly genetics 186, 221, 305 anatomy 17, 81-82 history 219 experimental studies 20 incidence 219 nonnal closure 20 mental retardation 220, 222-223 premature fusion 3, 42,81, III, 141-164, natural history 222 172-173,192,202-204,212,215-217,219,223 syndactyly and polydactyly 186,219,221-223, Corpus callosum, anomalies of 49, 125,205 305 Crane en tnbfle see Triphyllocephaly treatment 223,239,249 Cranial base see also Crouzon syndrome, cranial variable expressivity 219-223, 305 base in etc. Cartilage see also Chondrocranium, Mandibular development and growth 12,22-24 condyle, Meckel's cartilage, Nasal septum, functions V Spheno-occipital synchondrosis, etc. surgical anatomy 230-235 in skull growth 8, 12-14, 22 sutures 42, 48 in sutural closure 21, 47, 165 Cranial index see Cephalic index Cephalic index, horizontal Cranial nerve paralyses see also Strabismus clinical application 109-110 66--67, 197 measurement 77, 81, 110 Craniectomy see Linear craniectomy etc. in oxycephaly 177 Craniofacial dysostosis see Crouzon syndrome in plagiocephaly 156 Craniofacial operations see also Operative pro- in scaphocephaly 121, 128, 130 cedures, Maxillary osteotomy and facial advance• in trigonocephaly 134 ment, etc. in turricephaly 143, 149-150 complications 284-298 Cephalic index, vertical 77, 81, 110 history 6, 237-239 Cephalometric photography 245-249 procedures 283-284 Cephalometric radiology Craniofacial team and calvarial surgery 84 anaesthetist 96, 242, 250-251, 297-298 and craniofacial surgery 80, 84, 243-249, 299 dentist 79-80, 242, 298 orthodontic 80, 84, 298 ENT surgeon 79, 298-300 and skull growth 15-16 maxillofacial technician 298 Cerebrospinal fluid rhinorrhoea 263, 281, 284-285, medical geneticist 291, 298 294 neurosurgeon 6, 77,100,229,261-263,291,297 Choanal atresia 74, 193 nursing staff 280, 300 Chondrocranium ophthalmologist 77-79, 242, 298 and skull growth 12-13,22-26 oral surgeon 298 in Apert syndrome 202-203 orthodontist 6, 79-80, 243, 298 Chondrocyte 8 orthoptist 298 Christian II syndrome 137,305 photographer 88, 300 Chromosomal anomalies 33, 35,41,87,303-304 plastic surgeon 6, 100, 181,229,243,261-263, Cleft lip and palate 6,32, 134,204,212 291,297-302 Cleidocranial dysostosis 33 prosthodontist 298 Clinocephaly III psychiatrist 80, 291-295, 299 Cloverleaf skull see Triphyllocephaly psychologist 80 Clown's cap defonnity 174, 179, 189 radiologist 81-86, 243, 299 Coagulation disorders 87, 243, 285-286 secretary 297 Cohen syndrome (craniofrontonasal dysplasia) social worker 80,291-295,299 associated anomalies 224, 305 speech pathologist 299 calvarial defonnities 186,223-225 Craniofacial units convolutional markings 224 educational role 302 facial appearance 224 history 6, 296 genetics 226, 305 France 6, 283-284, 296 hypertelorism 72, 186,223-226,272-273 North America 283-284, 296 incidence 223 organisation 76, 296--302 natural history 226 South Australian V, 239, 25f), 291-302 sutures affected 223-224 United Kingdom 283-284 treatment 226, 239, 250, 269-273 Craniofrontonasal dysplasia see Cohen syndrome Collagen 7, 15, 27 Craniomaxillary fixation 242, 260, 263, 266--267, Coma scale, Glasgow 280 282,294 Conjunctival approach see Operative procedures, Craniopagus 32 Subject Index 325

Cranioplasty 98, 164, 181,274 deformities 233-234, 244 Craniostenosis exposure 262, 270 in Apert syndrome 206,211 Crista galli 22, 100, 104, 231 in Carpenter syndrome 220 Crossbite deformity 75, 195 cerebral pathology 48-50, 65-66 Crouzon syndrome (dysostosis craniofacialis) concept 51, 65 associated anomalies 198,305 in Crouzon syndrome 63-64, 190, 196--197, calvarial deformities 111, 115, 117, 142, 176, 200--201 186--192 history 3-5 cephalic index 188 mental retardation 66 cerebral pathology 49,66, 196--197 in oxycephaly 176--181 convolutional markings 67-69, 190-191, in Pfeiffer syndrome 215,217 196--197 in plagiocephaly 157 cranial base in 51, 192,233 radiological diagnosis 67-70, 83-84 craniostenosis 63-64, 190, 196--197,200 regional 69-70 dental abnormalities 195-196 in Saethre-Chotzen syndrome 211-214 epilepsy 197 in scaphocephaly 124 exophthalmos 60, 71,186,192-194,239 in Seckel syndrome 227 facial appearance 31, 60-62, 71, 192-196 symptomatology 61-67 faciostenosis 52, 73-75, 186--187, 192-196,200 treatment, operative 89-102, 239-240 hearing loss 74,79, 197-198 in turricephaly 142-144, 152 familial incidence 40--41, 186, 198-200 Craniosynostosis see also Sutures, premature genetics 5, 41, 186, 198-200, 305 fusion, and under individual deformities, sutures history 5, 187 and syndromes hydrocephalus 49,66,85-86, 197,201 aetiology 35--41, 54-56, 303-310 incidence 187-188 in animals 34 mental retardation 61, 197 asymptomatic 5, 121 natural history 68, 103, 200 cerebral pathology 48-50, 65 orbitostenosis 51, 71-72, 192-194,200 chromosomal defects 35, 41,87,228,303-304 palatal deformity 195-196 classification 35--40, 109-116, 185-186 papilloedema 63, 197 complex 40, 114, 185-186 radiology 67-70, 188-192 computerised tomography 49-50, 85-86, 124, sex incidence 55 136, 144, 159, 178,201,243,249 speech disorders 74: 196 concepts and theories 3-6, 18,31-34,50--53,238 sutures affected 192 cranial pathology 42--48, 50--53 treatment 200--201, 237-254, 257-277, 283-289 experimental 21, 33-34, 52 variable expressivity 187, 198-200 genetics 5, 40--41,185-186,303-310 visual failure 63-64, 197 history 3-6 Cyanoacrylate 21, 33 incidence 54-56 isotope bone scanning 85 Decompression see Raised intracranial pressure, metabolic 33,35-38,52,63,99, 176, 181 operative treatment, and Craniotomy, osteoplastic natural history 5, 60--61 Dicephaly 32 pathogenesis 33, 35--41, 50--53 Dolichocephaly 3, 109, 188 pneumencephalography 49,85-86, 144, 159 Dura mater primary 35, 40, 178 repair of tears 98, 263, 265, 285 psychosocial problems 60-61,239-241,291-295 septa 10--12, 32-33 radiology 48-50,81-86,243-247 Dural plication 96 secondary 38, 47, 117, 178 Dwarfism series of cases 114-115, 186 in Carpenter syndrome 221,305 sex incidence 55 in Seckel syndrome 226--227,307 simple 40, 114-115, 185 thanatophoric 176 symptomatology 5,59-75 Dysostosis craniofacialis see Crouzon syndrome syndromes 31, 35, 40--41, 114-115, 185-228, 303-310 Ear, anomalies and malformations and teratogens 35, 227, 307-308 in Apert syndrome 206 treatment, expectant 89-91, 103, 125-128 in Crouzon syndrome 197-198 treatment, operative 89-104 in other syndromes 303-305, 30S'--JI0 twins 55-56 in Saethre-Chotzen syndrome 212 without deformity 176 Ectomeninx see also Dura mater 10 Cretinism 3, 36 Electroencephalography 87 Cribriform plate Encephaloceles and meningoceles anatomy 231-234 congenital 269, 273 326 Subject Index

postoperative 236 results 164,214 Endomeninx 10 timing 240,254-257 Endosteum 7-8 Functional matrix see also Skull growth. theories Epilepsy 67,88, 121, 197,206,281 12,14,23-26,29-32 Ethmoid bone air sinuses 231-234,271 Genetic counselling anatomy 230-235 in Apert syndrome 208, 228 development and growth 24,28,231 in Carpenter syndrome 221, 228 hypoplasia 133 in Crouzon syndrome 198-200, 228 Exophthalmos in oxycephaly 178 in Crouzon syndrome 187, 192-194 in plagiocephaly 161, 169 measurement 71,78-79,242 in Saethre-Chotzen syndrome 214,228 and orbitostenosis 70-72 in scaphocephaly 125 Extradural haematoma 267,280,285-287 in trigonocephaly 137 Eye in turricephaly 146 dislocation 71, 99, 193,203,220,241 Genioplasty 275 malformations 198, 304, 306 Glaucoma 144, 309 relation to skull growth 24, 29 'Growing fracture' 95-96, 98, 164 volume and weight 64, 70, 90 'Harmonious' oxycephaly see also Mesaticephaly Face 176 aesthetic significance 61, 290-291 Headache 61-63 deformities 61, 70-73, 185-186,283,290-295 Head binding 16, 32, 165 development and growth 12-14,24-34 Hearing examination 77~79 assessment 79,300 photography 88, 300 loss 74, 79, 156, 159, 197-198,206 physiognomy V, 290 Holoprosencephaly 32, 133-136,304 Facial clefts 74, 273, 283 Hootnick-Holmes syndrome 125, 201, 306 Facial skeleton see Splanchnocranium Hydrocephalus development and growth 12-14 in Apert syndrome 49, 66, 86, 205-206 sutures 18, 33, 51-53, 73 causes 49-50,65, 104, 197 Faciostenosis in Crouzon syndrome 49-50, 66, 85-86, 197,201 airway restriction 73-74,193-195,236,239,241 effects on skull 21, 29 in Aperfsyndrome 52, 73-75, 186,203-204, investigation 49-50, 85-86, 104 239 in Pfeiffer syndrome 215 concept 52-53, 73,95 and primary craniosynostosis 49,65 in Cohen syndrome 224 and secondary craniosynostosis 38, 47 in Crouzon syndrome 193-196,239 treatment 104-105,201 and mastication 75 in triphyllocephaly 50,176,180 and speech disorders 74 in turricephaly 142 symptomatology 73-75 Hypertelorism treatment 103-104, 239-241, 249-250, 257-269, in Apert syndrome 202 283 classification 72 without calvarial craniosynostosis 52, 73, 187, in Cohen syndrome 72, 223-226, 305 257 in Crouzon syndrome 193,244 Falx cerebelli 10 facial appearance 72 Falx cerebri 10, 17,231,286 measurement 78-79 Fontanelles natural history 61 anatomy 10-11 in Pfeiffer syndrome 215 normal closure 11, 13 in Saethre-Chotzen syndrome 211-212 premature closure 33,60, 117, 143 surgical anatomy 234-235 Foramen caecum 231,253,262-263,270 treatment, expectant 61 Fronto-ethmoidal suture treatment, operative 103-104, 173,241, 247, premature fusion 142 248,269-273,283 Fronto-orbital advancement, bilateral Hyperthyroidism 36-37, 99 indications 100, 103, 147, 152,200,211,217, Hypophosphatasia 37-38, 99 240,249,252 Hypospadias 144 techniques 147-149,252-254 Hypotelorism 72,111,134,137,140,215,283 timing 240, 252 Hypsicephaly 109 Fronto-orbital advancement, unilateral indications 103, 161, 164,214,249,254 Infection, postoperative see Operative procedures, techniques 162-163, 254-257 infection Subject Index 327

Intermaxillary fixation hypoplasia 30,52,73-75, 186, 192-196, and dentition 241-242 203-204,212-213,215,236,245 management280,282,294,298-299 in mastication 75, 236 Isotopes Maxillary osteotomy and facial advancement see bone scanning 85 also Le Fort osteotomies cistemography 86 classification of procedures 249-250 shunt function study 237 complications 231, 235, 275-276, 288. history 237-239 Jackson-Weiss syndrome 201, 306 indications 173, 249-250, 257, 261, 263, 267 relapse after 102-103, 240, 288 Keratitis 71, 89, 193,239 surgical anatomy 231-235 K1eeb1attschiide1 see Triphyllocephaly techniques 257-269 timing 99-100, 102-104,240--241 Lambdoid suture see also Plagiocephaly Meckel's cartilage 13-14 anatomy 17 Mendosal suture 35 normal closure 20 Mental deterioration and retardation 61, 66, 74, premature fusion 3, 42, 47, 81, I I I, 164-173 121, 131, 134, 140, 142-143, 197,204-206,213, Le Fort I osteotomy 241, 249, 273, 274, 275 215 Le Fort II osteotomy 249 Mesaticephaly 109, 176, 188-189 Le Fort III osteotomy see also Maxillary os- Metopic suture see also Trigonocephaly teotomy and facial advancement bone defect in 202, 2Il, 219 definition 249 normal closure 20,27,35, 133 and fronto-orbital advancement 263-267 premature closure Ill, 133-140,215,219 indications 249-250, 257 Microcephaly 4,23,29,33,38,60,83, 143 surgical anatomy 23'0--235, 249-250 Morcellation 4 technique, subcranial 257-260 Mucopolysaccharides, in Apert syndrome 204 technique, transcranial261-267 transcranial versus subcranial 249-250, 261 Nanocephaly 3 Le Fort III plus I osteotomy Nasal septum indications 247, 267 anatomy 231 technique 267 deformity 73, 274 Le Fort III minus I osteotomy development and ~rowth 8, 24-26, 29-31 indications 2.50, 267 experimental studies 30 technique 267-269 relation to facial growth 29-31 Leptocephal y I I I resection 271 Linear craniectomy Nasendoscopy and cine fluoroscopy 79, 276, complications 98-99, 140, 164 299-300 history 3-5 Neural crest 13 indications 90--91, 128, 137, 147, 161, 171,200, Neurocranium see also Calvaria etc. 211,214,217,223,226 components 10, 17 re-operation 99, 149, 200 development and growth 10-13, 26 results 50-51,130-131,140,149-151, 17I-1n. functions V 200 Noack syndrome (acrocephalopolysyndactyly type techniques 91-95,128-130,138-139, 147-149, I) 186.219,221 171-172 Nose, deformities of 73, 193-194,212,224, timing 89-91 274 Lyophilised dura mater 93 Notochord 12

Malocclusion, dental see also Teeth, malocclusion Occipitomastoid suture classification 79 normal closure 20 Mandible premature closure 33, 54 development and growth 26--28 Olfaction prognathism 30, 75, 245, 275, 288 assessment 77 Mandibular condyle loss 197 development and growth 8, 14,26,29 Open bite deformity 75, 195,215,239 excision 275 Operative procedures see also Craniofacial oper• Mandibular osteotomies ations, Linear craniectomy, Ma{ll1ary osteotomy, indications 173,241,274,275 etc. techniques 275 anaesthesia 96, 242, 250--25 I, 258 Maxilla asepsis 97, 104, 243, 258, 284 anatomy 231 blood loss 96, 98, 281, 285-287 development and growth 24-26, 192 chemotherapy and 97,243,258,281,284 328 Subject Index

complications 98-99, 101 102, 103-105, 164, mental retardation 177 263,267,280-289,295 radiology 177-178 drainage 98, 267, 282, 287 sutures affected 115, 174--178 fluid replacement 251, 281 treatment, expectant 178 history 3-6, 237-239 treatment, operative 90, 95, 99-102, 178-181 incisions and approaches 97-98, 236, 251-252 twins 55-56 indications: cosmetic 89-91, 239-240, 290--292 indications: craniostenosis 89-91, 99-102, 239 Pachycephaly III indications: faciostenosis 95, 102-104, 239 Palatal sutures, premature fusion 192 indications: orbitostenosis 89, 99-104, 239 Palate infection 98, 284--285 in Apert syndrome 204, 304, 309 mortality 10 1, 284 in Crouzon syndrome 195-196 organisation 250, 300 and maxillary hypoplasia 74, 195 pain from 280--281 Papilloedema 3, 63-66, 89-90, 142-144, 197,206, postoperative care 278-282 215 pre-operative assessment 241-249, 293-294, Parietal bone, congenital defect in 212 299-300 Parturition 19, 35, 60 results 283-289, 295 Perinasal osteotomy 273 surgical anatomy 229-237 Periosteum 7, 27, 29-31 timing 89-91, 99-100, 102-104,238-241, Petro-occipital suture, premature closure 165 293-294 Pfeiffer syndrome (acrocephalosyndactyly type V) Optic atrophy 63--66, 90,177,197 associated anomalies 215-216, 306 Optic foramina calvarial deformities 142, 186,215 displacement 234 craniostenosis 215, 217 stenosis 63, 197 . dental abnormalities 215 Orbit see also Exophthalmos, Orbitostenosis. and facial appearances 21 7 Orbital dystopia faciostenosis 186, 215 anatomy V, 70, 230-235 genetics 186,216--217,306 decompression 237, 239-241 history 214 development and growth 24, 29, 31 hydrocephalus 215 measurement 78-79, 242, 248 hypertelorism 215, 306 volume 70 incidence 215 Orbital dystopia mental retardation 215 facial appearance 73 natural history 217 measurement 78-79 papilloedema 215 natural history 61 treatment 217-218 in Saethre-Chotzen syndrome 212-214 syndactyly 186, 214, 218, 306 treatment, operative 103, 173,241,247,248, Pharyngoplasty 276, 288 269-273 Photocephalometry see Cephalometric photo• Orbital translocation graphy indications 173, 226, 269 Plagiocephaly techniques 269-273 in Apert syndrome 154, 203 Orbitostenosis classification 111, 153 concept 51-52, 70 in Crouzon syndrome 189, 191 in Crouzon syndrome 192-194, 239 history 3 symptomatology 70--71 papilloedema 64 treatment 101-103, 239-241, 283 in Sacthre-Chotzen syndrome 115, 154, 169, 189, Osteoblast 7-8, 15, 47 191,211-214 Osteoclast 7-8, 47 Plagiocephaly. frontal Osteoplastic craniotomy associated anomalies 156--157 indications 99-100, 152, 179-181, 240 calvarial deformities 153-156 operative techniques 100-10 I, 179-181 cephalic index 156 Oto-digital-anal syndrome 159 convolutional markings 69, 159 Oxycephaly cranial base in 153, 159, 164 calvarial deformities 174--176, 178 cranial pathology 154--156 cephalic index 177 dental malocclusion 164 cerebral pathology 176 facial appearances 153-154, ic56--157 convolutional markings 69,178 familial incidence 40, 156, 159-161 cranial pathology 176 mental retardation 156 in Crouzon syndrome 115, 176--181, 187-192 orbit in 153, 157-159 history 3 radiology 83, 157-159 incidence 176--177 sex incidence 156 Subject Index 329

strabismus 156 Saethre-Chotzen syndrome (acrocephalosyn• sutures affected Ill, 115, 153-156 dactyly type nn treatment, expectant 161 associated anomalies 186, 213-214, 306-307 treatment, operative 161-164,238-241,247, calvarial deformities 115, 154, 156, 186,211-212 269-273 convolutional markings 69, 212 Plagiocephaly, hemicranial craniostenosis 211-214 dental malocclusion 172-173 dental abnormalities 212-213 facial appearances 172-173 epilepsy 213 sutures affected Ill, 115, 172-173 facial appearances 211-214 treatment 173 faciostenosis 214 Plagiocephaly, occipital genetics 186, 199,214,306 associated anomalies 168-169 history 211 calvarial deformities 166-169, 171 incidence 211 cranial base in 169 mental retardation 213 cranial pathology 165 natural history 214 facial appearances 166-167 orbitostenosis 214 incidence 165-166 sutures affected 212 radiology 169 syndactyly 186, 213-214 sex incidence 166 treatment 214,239,269 sutures affected Ill, 115, 164-165 variable expressivity 169, 185,211,306 treatment, expectant 169-171 Sagittal suture see also Scaphocephaly treatment, operative 171-172 anatomy 17 twins 56 normal closure 20 Plagiocephaly, postural 59, 153, 164 premature fusion 3, 5,42,81, Ill, li5, 117-132, Pneumocephalus see A'erocele 192,202,212,215,219,307 Pneumothorax 280, 288 Scalp incisions see Operative procedures, incisions Polyethylene 4, 92 and approaches Polysyndactyly, in craniofacial syndromes 186, Scaphocephaly 207,305-306,309-310 associated anomalies 121, 306-307, 309 Pseudo-Crouzon syndrome 187 calvarial deformity 60, Ill, 117, 121 Psychosocial problems in Carpenter syndrome Ill, 117,219,249 assessment 80, 291-294 cephalic index 121, 128, 130 and deformity 60--61, 89-91, 290-295 cerebral pathology' 117 management 91,239-241,291-295 convolutional markings 69, 124 postoperative 289, 295 cranial base in 81, 122 Ptosis cranial pathology 117, 120-124 postoperative 287 craniostenosis 124 in Saethre-Chotzen syndrome 212 in Crouzon syndrome Ill, 115, 117,249 treatment 277 epilepsy 121 facial appearance 118, 121 Radiohumeral synostosis 308-309 familial incidence 40, 125 Radio-ulnar ankylosis 198,207,305 incidence 119-120 Raised intracranial pressure see also Con- mental retardation 121, 131 volutional impressions, Craniostenosis, and Pa• natural history 60, 121, 125-128 pilloedema papilloedema, rarity of 64, 121 and anaesthesia 251 pathogenesis 35 cranial pathology 48 psychosocial problems 126-128, 132 operative treatment 100-102, 147-149, 152,283 radiology 81, 121-124 measurement and monitoring 67,86,178,201, sex incidence 55, 120 280 sutures affected Ill, 115, 117, 123-124 in metabolic craniosynostosis 36-38, 63 treatment, expectant 125-128 radiological signs 48, 67-70 treatment, operative 128-132,249 symptomatology 61-67 in twins 56 Regeneration of calvarial bone see also Cal- Scoliosis and plagiocephaly 153, 164 variectomy, Linear craniectomy, etc. Seckel syndrome 227, 307 delay by alloplastic implants 4, 92-93 Septoplasty 271, 275 delay by chemical coagulation 93-94 Shunts, for hydrocephalus delay by dural resection 94-95 complications 105, 237 experimental 17, 20 indications 104-105, 180,201 Rhinoplasty 164,275 technique 104-115 Richmond screw 67,86 Silastic 93-95, 98, 100, 130, 139-140, 149, 163, Rickets 33, 36 172,179-181,236,254,275 330 Subject Index

Skull see Calvaria, Chondrocranium, Cranial base, mobility 19, 77 Facial skeleton, Neurocranium, Splanchno• normal closure 20--21 cranium, etc. premature fusion 3--5, 31-34, 42-48, 50--53, 73, Skull growth see also Sutures etc. 109-116 cephalometry 15-16 re-appearance after craniectomy 51-52, 93, 149 head binding and 16,32,165 regional systems 17 theories 19-34 Synchondroses see also Chondrocranium, Spheno• Snoring 74, 193,283 occipital synchondrosis 8-9,17 South Australia (State) see also Craniofacial units, Syndactyly South Australian in Apert syndrome 201, 206-210, 278, 304 population statistics V, 54 in craniosynostosis syndromes 5, 80, 185-186, sociology 59, 80 201,304-310 Speech disorders in Pfeiffer syndrome 214-218,278 in Apert syndrome 204 in Saethre-Chotzen syndrome 21 1,213-214 in Crouzon syndrome 74, 196 treatment 210, 278 in faciostenosis 74, 241 Syndesmoses see Sutures investigation 79, 299-300 Speech disorders Tarsorrhaphy 71, 89 postoperative 276, 288 Teasing 60, 127, 137, 150,293 Sphenocephaly 111 Teeth Sphenofrontal suture dental models 243, 247-248, 298 anatomy 82,231 development and growth 24-26 premature fusion 42, Ill, 142-152, 154-164, malocclusion 74-75, 79--80, 195,204,224,239, 192,212 241,273 Sphenoidal ridge 147,231,234-235,253 Telecanthus 72, 78-79, 224 Sphenoid bone Temporomandibular joint see also Mandibular anatomy 230-234 condyle 14 development and growth 27 Tentorium cerebelli 10, 17 Spheno-occipital synchondrosis Teratogens 35, 227, 307-308 in Apert syndrome 48, 202-203 Thersites 107 in Crouzon syndrome 192 Thumbs and toes, in Pfeiffer syndrome 214-218,278 development and growth 8, 22-25, 29-31,192 Titanium 274 normal closure 192 Torticollis, and plagiocephaly 153 relation to skull growth 22-25,29-31 Tracheostomy Sphenotemporal suture 20 indications 251 Sphenozygomatic suture, premature fusion of 42, management 280, 294 142 technique 251 Splanchnocranium see also Face, development and Trapezoidocephaly 308 growth, Mandible, Maxilla, etc. V, 10, 13-17, Trigeminal neuralgia 67 24-34 Trigonocephaly Squamosal suture associated anomalies 137, 303-305 normal closure 20 calvarial deformity 133-135 premature fusion 42, 70, 8 I, 172-173, 202, 212 cephalic index 134 Sterilisation, eugenic 142, 208 cerebral pathology 49, 133-134 Strabismus convolutional markings 69 in Apert syndrome 206, 277 cranial pathology 133 and craniosynostosis 67,156,172 in Crouzon syndrome 189 in Crouzon syndrome 192, 277 facial appearances 134-135, 140 in plagiocephaly 156, 172 familial incidence 137 postoperative 277, 287 incidence 134 treatment 277 mental retardation 134, 140 Stylohyoid ligament in Crouzon syndrome 198, natural history 60 305 papilloedema, rarity of 64 Summitt syndrome 219, 307 in Pfeiffer syndrome 215 Sutures see also Calvaria, sutures, Cranial base, radiology 136 sutures, Coronal suture, etc. sex incidence 55, 134 development and growth 10--13, 17-31 sutures affected I I 1, 115, 131 experimental studies 20--21, 33-34 treatment, expectant 137 facial 18 treatment, operative 137-140 functions 19,50 Triphyllocephaly (cloverleaf skull, crane en trefle, histology and histopathology 18-21,42-48, I 17, Kleeblattschiidel) 133,142,155-156,165,176,202 calvarial deformity 175-176 Subject Index 331

cerebral pathology 49-50, 176 sutures affected Ill, 115, 141-142 in Crouzon syndrome 115,176,189-190 treatment, expectant 146-147 pathogenesis 175-176 treatment, operative 147-152,239 sutures affected 114 twins 56 treatment, operative 90, 95, 178-181 Trisomy-21 33 Turricephaly Twins 55-56 in Apert syndrome 115, 142, 202 associated anomalies 144 Ultrasonic ventricular imaging 104 calvarial deformity 60, 141-142 cephalic index 143, 149-150 Velopharyngeal incompetence 74, 196,276,288 cerebral pathology 49, 142 Viscerocranium see Splanchnocranium convolutional markings 69, 144 Vision cranial base in 81, 142 assessment 77-79,280 craniostenosis 144, 152 cortical evoked potentials 79, 242, 280, 286 in Crouzon syndrome 115, 142, 188 failure V, 3, 63-66, 177, 197,285-286 facial appearances 143, 150 Vogt syndrome (acrocephalosyndactyly type II) familial incidence 40, 145-146 186,201 incidence 143 mental retardation 142-143 Waardenburg syndrome (acrocephalosyndactyly papilloedema 63, 143-144 type IV) 186,201,310 in Pfeiffer syndrome 142,215 Wormian bones 20-21 psychosocial problems 60 radiology 83, 144-145 Zygomaticomaxillary suture, experimental studies sex incidence 55, 143 20,22 L. Pellettieri Surgical Versus Conservative Treatment of Intracranial Arteriovenous Malformations A Study in Surgical Decision-Making In collaboration with C.-A Carlsson, S. Grevsten, G. Norlen, Chr. Uhlemann 1980.29 figures, 16 tables. VIII, 86 pages (Acta Neurochirurgica/Supplementum 29) ISBN 3-211-81561-9

Computerized Tomography - Brain Metabolism - Spinal Injuries Editors: w. Driesen, M. Brock, M. Klinger 1982. 186 figures, 76 tables. Approx. 420 pages (Advances in Neurosurgery, Volume 10) ISBN 3-540-11115-8

W.Seeger Microsurgery of the Brain Anatomical and Technical Principles 1980.351 figures. XI, IV, 727 pages. ISBN 3-211-81573-2

Microsurgery for Cerebral Ischemia Editors: S. 1. Peerless, C. W. McComlick 1980.282 figures. XVII,372 pages. ISBN 3-540-90495-6

Springer-Verlag Intracranial Pressure IV Berlin Editors: K Shulman, A Marmarou, 1. D. Miller, D. P. Becker, G. M. Hochwald, M. Brock,. Heidelberg 1980.235 figures, 82 tables. XVIII, 696 pages New York ISBN 3-540-09860-7 E. Biemer, W. Duspiva Reconstructive Microvascular Surgery Translated from the German by D. Soutar With forewords by U. Schmidt-Tintemann, D. Buck-Gramcko 1982.315 figures, some in color. Approx. 165 pages ISBN 3-540-11320-7

E Horan, P. Beighton Orthopaedic Problems in Inherited Skeletal Disorders Foreword by W. 1. W. Sharrard 1982.98 figures. XVI, 142 pages. ISBN 3-540-11311-8

P. Beighton, B. 1. Cremin Sclerosing Bone Dysplasias Foreword by H. G. Jacobson 1980.62 figures in 218 separate illustrations. XI, 191 pages. ISBN 3-540-09471-7

E Schajowicz Tumors and Tumorlike Lesions of Bone and Joints 1981. 948 figures, 2 color inserts. XIV, 581 pages ISBN 3-540-90492-1 Bone and Joint Disease Editor: C.L.Berry 1982.110 figures. Approx. 330 pages (Current Topics in Pathology, Volume 71) ISBN 3-540-11235-9

EG.Zak, w.Lawson Springer-Verlag The Paraganglionic Chemoreceptor Berlin System: Physiology, Pathology, and Clinical ~edicine Heidelberg 1982. Approx. 224 figures. Approx. 575 pages New York ISBN 3-540-90621-5