DOCSLIB.ORG

Craniofacial Dysostosis (The Crouzon Syndrome)

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Craniofacial Dysostosis (The Crouzon Syndrome) Case Reports 89 J Med Genet: first published as 10.1136/jmg.10.1.89 on 1 March 1973. Downloaded from Seabright, M. (1971). Rapid banding technique for human chro- attributed sporadic cases to spontaneous mutation. somes. Lancet, 2, 971-972. Summitt, R. L. (1969). Cytogene:ics in mentally defective children Most authors have ascribed the frequent variability with anomalies: a controlled study. journal of Pediatrics, 74, 58- in the manifestations to irregular expression rather 66. than to anomaly of penetrance. Talvik, T. A. and Mikelsaar, A.-V. N. '1969). A new case of ring chromosome of the group 21-22 (G2 ?). Genetika, 5, No. 12, Our purpose in this report is the description of 129-133. two sibs, a female and a male, with manifestations of Thorburn, M. J. and Tohnson, B. E. (1966). Apparent monosomy of G autosome in Jamaican infant. 7ournal of Medical Genetics, the syndrome; however, neither the parents nor the 3, 290-292. grandparents nor any consanguineous relatives have Weleber, R. G., Hecht, F., and Giblett, E. R. (1968). Ring-G chromosome, a new G-deletion svndrome ? American Journal of a similar appearance. After evaluating other Diseases of Childrent, 115, 489-493. explanations, we propose that the craniofacial dis- Zdansky, R., Buhler, E. M., Vest, M., Buihler, U. K., and Stalder, G. order in the family is monogenically determined as (1969). Familiares Mosaik mit G-Ring. Humangenetik, 7, 275- 286. autosomal recessive. Case Reports The sister of the propositus (Fig. 1) was born on 31 October 1961 and was first referred to the Confederate Memorial Medical Center of Shreveport, Louisiana, at the age of 9 months, because in treating her respiratory An Autosomal Recessive Form of symptoms, the family physician noted a prominent an- terior fontanelle. Results ofthe examination of her spinal Craniofacial Dysostosis fluid were normal, and she was treated for bilateral otitis (The Crouzon Syndrome) media, the examiners noting no morphological abnor- malities. Though the anterior fontanelle bulged on subsequent examinations at 10, 12, and 14 months, she Summary. Craniofacial dysostosis, was asymptomatic. She had two examinations in the the Crouzon syndrome, occurs sporadi- clinic duringthefollowing year, and the anterior fontanelle cally and in families; the clearly heritable bulged on each occasion. form up to now has been autosomal domi- At 28 months of age she showed rotatory nystagmus, copyright. two exophthalmos, and visual defects. Skull radiology nant. We ascertained similarly showed closed sutures and prominence in the region of affected sibs, a brother and a sister, in a the anterior fontanelle. Ventriculograms, made by tre- sibship of nine. Neither the Negro phining, demonstrated no abnormalities; but, three parents nor any ancestors nor collateral months later, her scalp still bulged at the operative sites. relatives were similarly affected. The She did not return for examination in our hospital un- til 9 years of age following the determination of visual http://jmg.bmj.com/ parents were not consanguineous. After difficulty in school. Her height of 132 cm placed her excluding other genetic and environ- between the 25th and 50th centiles. By this time she mental explanations, we concluded that manifested scaphocephaly with a slightly ridged sagittal the reasonably typical findings of the dis- suture; there was also bilateral prominence of the frontal in the two sibs were bones (Fig. 2). She had a parrot-beaked nose and a order probably relatively underdeveloped maxilla with a prominent genetically determined by a single, auto- mandible and a drooping lower lip (Fig. 3). Though somal recessive gene. she appeared to have somewhat shallow orbits and pro- minent globes, she did not have exophthalmos by on September 24, 2021 by guest. Protected measurement. Table I lists pertinent determinations, Craniofacial dysostosis, or the Crouzon syndrome including her diminished visual acuity presumably from after its describer, generally results in the following partial optic atrophy; from the cranial and intercanthal phenotype: cranial synostosis or synostoses, bilateral measurements we calculated her canthal index to be 43 exophthalmos with external strabismus, psitticor- and her circumference-interorbital index to be 8 3 hina, and maxillary underdevelopment with relative (Gorlin and Pindborg, 1964). She continued to have rotatory nystagmus. She had no other significant abnor- mandibular prognathism and a drooping lower lip. malities: specifically, her ear canals were normal, her From the time of the original description most ob- nasal septum deviated slightly to the left, and her palate, servers have recognized the syndrome to be uvula, and tongue were normal; she had 10 maxillary genetically determined-specifically, monogeni- teeth, missing both canines, and 11 mandibular teeth, cally as autosomal dominant-and they have usually missing one first molar; her hands and feet were normal. Skull radiology at 9 years displayed anterior flattening Received 4 April 1972. of the frontal bones and heavy convolutional markings, 90 Case Reports J Med Genet: first published as 10.1136/jmg.10.1.89 on 1 March 1973. Downloaded from I *= Craniofacial dysostosis 10 10 00= Age in years II 9?&= Aqe at death 0 =Sex unknown or abortion f/ = Propositus III V FIG. 1. Pedigree of the family. copyright. http://jmg.bmj.com/ FIG. 3. Female sib at 9i years with craniofacial dysostosis; parrot- FIG. 2. Female sib at 9i years with craniofacial dysostosis; note beaked nose, maxillary underdevelopment with mandibular external strabismus. prognathism and a drooping lower lip. on September 24, 2021 by guest. Protected presumably the result of increased intracranial pressure tonsillectomy, adenoidectomy, and provision of middle of several years' duration; sutural lines were not visible. ear-drainage. She had no convulsions. She completed the third grade of elementary school The propositus (see Fig. 1) was born on 23 March before placement in a special class for the retarded. 1963, the sixth in a sibship of six females and three males; Formal psychological evaluation classified her at first- in addition, their mother had one daughter by a previous grade level in language arts and numbers skills. The test husband. At birth the weight of the propositus was judged her retarded in articulation, vision, reading, and 3-5 kg, his height was 49 cm, and his head circumference numbers skills-and very retarded in social skills. In was 35 cm. addition to the difficulties mentioned above, she had He came to our hospital at 71 years of age following a chronic and recurrent otitis media resulting in moderate diagnosis of visual impairment from partial optic atro- conductive hearing loss, and she received treatment by phy. His height of 124 cm placed him between the Case Reports 91 J Med Genet: first published as 10.1136/jmg.10.1.89 on 1 March 1973. Downloaded from 25th and 50th centiles. He manifested scaphocephaly with prominence of the ridged sagittal suture and frontal bones (Fig. 4). Though he appeared to have pro- TABLE I minent eyes, perhaps accentuated by strabismus, with PHYSICAL MEASUREMENTS OF TWO SIBS WITH somewhat shallow orbits, measurement did not indicate CRANIOFACIAL DYSOSTOSIS exophthalmos (Table I). Apparently less affected than his sister, his profile was not unusual (Fig. 5), so that his Affected Sib Measurement nose was not abnormal, and his maxilla and mandible Female Male were not disproportionate. His canthal index was esti- Circumference, cranial mated to be 41 and his circumference-interorbital index (cm) 51-7 50-1 to be 7-8, both less than his sister's values. Like his sib, Intercanthal, external his ear canals were normal, his nasal septum deviated (cm) 10 1 9.5 slightly to the left, and his palate, uvula, and tongue were Intercanthal, internal (cm) 4-3 3 9 normal. He had 10 maxillary teeth, missing both lateral incisors, and 12 mandibular teeth. His hands and feet Interpupillary (cm) 8-5 7-3 were normal; he did not have convulsions. Diameter, cornea (mm) Skull radiology exhibited heavy convolutional mark- Left 12 12 Right 12 12 ings and absence of sutural lines. He completed the second grade of elementary school; however, formal Exophthalmometry, Hertel (mm) psychological testing placed him as first-grade level in Left 19 16 language arts and numbers skills and found him below Right 19 16 average in learning capacity with poor visual perception, Acuitv, visual (corrected) poor emotional control, and inadequate social adjustment. Left 20/20 20/20 Right Light perception 20/200 By history there were no similarly affected persons on either side of the familv (Fig. 1). One maternal aunt Refraction Left +±100+1±25x 110 +0 25+0 25x9go was reportedly crippled from the time of birth and died Right + 0 50 + 0 50 x 135' + 0 50 + 0 25 x 90' at 18 years. Two sisters, maternal first cousins of the propositus, died of unknown causes, each at less than 2 years of age, and another maternal first cousin died at age 2 from infectious disease. Neither of the two sibs nor their parents had either cranial or facial anomalies copyright. http://jmg.bmj.com/ '9 on September 24, 2021 by guest. Protected FIG. 4. Male sib at8n years withdysostosisrcraniofacial FIG. 5. Male sib at 81 years with craniofacial dysostosis; normal note scaphocephaly and external strabismus. profile. e,~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~ 92 Case Reports J Med Genet: first published as 10.1136/jmg.10.1.89 on 1 March 1973. Downloaded from FIG. 6. Mother of the two offspring with craniofacial dysostosis FIG. 7. Father of the two offspring with craniofacial dysostosis (39 (36i years). years). according to our informants. The father's sibship had Christian et a!, 1969). According to one definition ofcopyright. an unusual number of deceased persons; we determined telecanthus in Caucasians-that is, a canthal index only that one died with pneumonia and another with an greater than 39-3 (Christian et al, 1969)-both sibs have enlarged heart.
Load more

Recommended publications
  • Frontosphenoidal Synostosis: a Rare Cause of Unilateral Anterior Plagiocephaly
    View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by RERO DOC Digital Library Childs Nerv Syst (2007) 23:1431–1438 DOI 10.1007/s00381-007-0469-4 ORIGINAL PAPER Frontosphenoidal synostosis: a rare cause of unilateral anterior plagiocephaly Sandrine de Ribaupierre & Alain Czorny & Brigitte Pittet & Bertrand Jacques & Benedict Rilliet Received: 30 March 2007 /Published online: 22 September 2007 # Springer-Verlag 2007 Abstract Conclusion Frontosphenoidal synostosis must be searched Introduction When a child walks in the clinic with a in the absence of a coronal synostosis in a child with unilateral frontal flattening, it is usually associated in our anterior unilateral plagiocephaly, and treated surgically. minds with unilateral coronal synostosis. While the latter might be the most common cause of anterior plagiocephaly, Keywords Craniosynostosis . Pediatric neurosurgery. it is not the only one. A patent coronal suture will force us Anterior plagiocephaly to consider other etiologies, such as deformational plagio- cephaly, or synostosis of another suture. To understand the mechanisms underlying this malformation, the development Introduction and growth of the skull base must be considered. Materials and methods There have been few reports in the Harmonious cranial growth is dependent on patent sutures, literature of isolated frontosphenoidal suture fusion, and and any craniosynostosis might lead to an asymmetrical we would like to report a series of five cases, as the shape of the skull. The anterior skull base is formed of recognition of this entity is important for its treatment. different bones, connected by sutures, fusing at different ages. The frontosphenoidal suture extends from the end of Presented at the Consensus Conference on Pediatric Neurosurgery, the frontoparietal suture, anteriorly and inferiorly in the Rome, 1–2 December 2006.
    [Show full text]
  • Osteodystrophy-Like Syndrome Localized to 2Q37
    Am. J. Hum. Genet. 56:400-407, 1995 Brachydactyly and Mental Retardation: An Albright Hereditary Osteodystrophy-like Syndrome Localized to 2q37 L. C. Wilson,"7 K. Leverton,3 M. E. M. Oude Luttikhuis,' C. A. Oley,4 J. Flint,5 J. Wolstenholme,4 D. P. Duckett,2 M. A. Barrow,2 J. V. Leonard,6 A. P. Read,3 and R. C. Trembath' 'Departments of Genetics and Medicine, University of Leicester, and 2Leicestershire Genetics Centre, Leicester Royal Infirmary, Leicester, 3Department of Medical Genetics, St Mary's Hospital, Manchester. 4Department of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne; 5MRC Molecular Haematology Unit, Institute of Molecular Medicine, Oxford; and 6Medical Unit and 7Mothercare Unit for Clinical Genetics and Fetal Medicine, Institute of Child Health, London Summary The physical feature brachymetaphalangia refers to shortening of either the metacarpals and phalanges of the We report five patients with a combination ofbrachymeta- hands or of the equivalent bones in the feet. The combina- phalangia and mental retardation, similar to that observed tion of brachymetaphalangia and mental retardation occurs in Albright hereditary osteodystrophy (AHO). Four pa- in Albright hereditary osteodystrophy (AHO) (Albright et tients had cytogenetically visible de novo deletions of chro- al. 1942), a dysmorphic syndrome that is also associated mosome 2q37. The fifth patient was cytogenetically nor- with cutaneous ossification (in si60% of cases [reviewed by mal and had normal bioactivity of the a subunit of Gs Fitch 1982]); round face; and short, stocky build. Affected (Gsa), the protein that is defective in AHO. In this patient, individuals with AHO may have either pseudohypopara- we have used a combination of highly polymorphic molec- thyroidism (PHP), with end organ resistance to parathyroid ular markers and FISH to demonstrate a microdeletion at hormone (PTH) and certain other cAMP-dependent hor- 2q37.
    [Show full text]
  • Orphanet Journal of Rare Diseases Biomed Central
    Orphanet Journal of Rare Diseases BioMed Central Review Open Access Brachydactyly Samia A Temtamy* and Mona S Aglan Address: Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre (NRC), El-Buhouth St., Dokki, 12311, Cairo, Egypt Email: Samia A Temtamy* - [email protected]; Mona S Aglan - [email protected] * Corresponding author Published: 13 June 2008 Received: 4 April 2008 Accepted: 13 June 2008 Orphanet Journal of Rare Diseases 2008, 3:15 doi:10.1186/1750-1172-3-15 This article is available from: http://www.ojrd.com/content/3/1/15 © 2008 Temtamy and Aglan; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. The various types of isolated brachydactyly are rare, except for types A3 and D. Brachydactyly can occur either as an isolated malformation or as a part of a complex malformation syndrome. To date, many different forms of brachydactyly have been identified. Some forms also result in short stature. In isolated brachydactyly, subtle changes elsewhere may be present. Brachydactyly may also be accompanied by other hand malformations, such as syndactyly, polydactyly, reduction defects, or symphalangism. For the majority of isolated brachydactylies and some syndromic forms of brachydactyly, the causative gene defect has been identified.
    [Show full text]
  • Classific-Ation and Identification of Inherited Brachydactylies
    Journal of Medical Genetics, 1979, 16, 36-44 Classific-ation and identification of inherited brachydactylies NAOMI FITCH From the Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Quebec, Canada SUMMARY A search for patterns of malformation in the brachydactylies has resulted in new ways to identify the different types. Type A-I can be characterised by a proportionate reduction of the middle phalanges. Type B is thought to be an amputation-like defect. In type C the fourth middle phalanx is usually the longest, and type E (Riccardi and Holmes, 1974) is characterised by short metacarpals and short distal phalanges. Short stature is usually present in type A-1 and type E brachydactyly (Riccardi and Holmes, 1974) and it may be present in some individuals with brachydactyly C. As short children have short hands, it is possible that in patients with very mild expressions of brachydactyly the cause of the short stature may be overlooked. It is suggested that in every child with propor- tionate short stature the hands should be carefully examined. If the hands are disproportionately short, if any distal creases are missing, if there is a shortening, however mild, of any finger, if any metacarpals are short, then it is important to have x-rays to look for brachydactyly A-1, C, or E. Much information is still needed. It is important in future reports to have skeletal surveys, pattern profile analyses, and to note the height of children with brachydactyly C. Most interesting of all will be when fetal limbs of each type become available for study.
    [Show full text]
  • Free PDF Download
    Eur opean Rev iew for Med ical and Pharmacol ogical Sci ences 2015; 19: 4549-4552 Concomitance of types D and E brachydactyly: a case report T. TÜLAY KOCA 1, F. ÇILEDA ğ ÖZDEMIR 2 1Malatya State Hospital, Physical Medicine and Rehabilitation Clinic, Malatya, Turkey 2Inonu University School of Medicine, Department of Physical Medicine and Rehabilitation, Malatya, Turkey Abstract. – Here, we present of a 35-year old examination, it was determined that the patient, female diagnosed with an overlapping form of who had kyphotic posture and brachydactyly in non-syndromic brachydactyly types D and E the 3 rd and 4 th finger of the right hand, in the 4th with phenotypic and radiological signs. There finger of the left hand and clinodactyly with was observed to be shortening in the right hand th metacarpal of 3 rd and 4 th fingers and left hand brachdactyly in the 4 toe of the left foot (Fig - metacarpal of 4 th finger and left foot metatarsal ures 1 and 2). It was learned that these deformi - of 4 th toe. There was also shortening of the distal ties had been present since birth and a younger phalanx of the thumbs and thoracic kyphosis. sister had similar shortness of the fingers. There The syndromic form of brachydactyly type E is was no known systemic disease. The menstrual firmly associated with pseudo-hypopthyroidism cycle was regular and there was no known his - as resistance to pthyroid hormone is the most prominent feature. As the patient had normal tory of osteoporosis. In the laboratory tests, the stature, normal laboratory parameters and no results of full blood count, sedimentation, psychomotor developmental delay, the case was parathormon (PTH), vitamin D, calcium, alka - classified as isolated E type brachydactyly.
    [Show full text]
  • An Isolated Case of Brachyphalangism of the Basal Finger Bones of the Little Finger with Symptoms of Tenosynovitis: a Case Report
    Open Journal of Rheumatology and Autoimmune Diseases, 2018, 8, 66-70 http://www.scirp.org/journal/ojra ISSN Online: 2164-005X ISSN Print: 2163-9914 An Isolated Case of Brachyphalangism of the Basal Finger Bones of the Little Finger with Symptoms of Tenosynovitis: A Case Report Kazuhiko Hashimoto*, Ryosuke Kakinoki, Yukiko Hara, Naohiro Oka, Hiroki Tanaka, Kazuhiro Ohtani, Masao Akagi Department of Orthopedic Surgery, Kindai University Hospital, Osakasayama City, Osaka, Japan How to cite this paper: Hashimoto, K., Abstract Kakinoki, R., Hara, Y., Oka, N., Tanaka, H., Ohtani, K. and Akagi, M. (2018) An Isolated Brachydactyly is a general term that refers to disproportionately short fingers Case of Brachyphalangism of the Basal Fin- and toes and forms a part of the group of limb malformations characterized ger Bones of the Little Finger with Symp- by bone dysostosis. Brachydactyly usually occurs either as an isolated malfor- toms of Tenosynovitis: A Case Report. Open Journal of Rheumatology and Autoimmune mation or as a part of a complex malformation syndrome. Brachydactyly is Diseases, 8, 66-70. classified as types A, B, C, D, or E; brachymetatarsus IV; Sugarman brachy- https://doi.org/10.4236/ojra.2018.82006 dactyly; or Kirner deformity. Various types of isolated brachydactyly are rare, except for types A3 and D. We describe a 15-year-old girl with isolated bra- Received: April 7, 2018 Accepted: May 22, 2018 chyphalangism of the basal finger bones of the little finger with symptoms of Published: May 25, 2018 tenosynovitis. Tenosynovitis might be caused by growth deviation between the flexor digitorum superficialis and the flexor digitorum profundus.
    [Show full text]
  • Four Unusual Cases of Congenital Forelimb Malformations in Dogs
    animals Article Four Unusual Cases of Congenital Forelimb Malformations in Dogs Simona Di Pietro 1 , Giuseppe Santi Rapisarda 2, Luca Cicero 3,* , Vito Angileri 4, Simona Morabito 5, Giovanni Cassata 3 and Francesco Macrì 1 1 Department of Veterinary Sciences, University of Messina, Viale Palatucci, 98168 Messina, Italy; [email protected] (S.D.P.); [email protected] (F.M.) 2 Department of Veterinary Prevention, Provincial Health Authority of Catania, 95030 Gravina di Catania, Italy; [email protected] 3 Institute Zooprofilattico Sperimentale of Sicily, Via G. Marinuzzi, 3, 90129 Palermo, Italy; [email protected] 4 Veterinary Practitioner, 91025 Marsala, Italy; [email protected] 5 Ospedale Veterinario I Portoni Rossi, Via Roma, 57/a, 40069 Zola Predosa (BO), Italy; [email protected] * Correspondence: [email protected] Simple Summary: Congenital limb defects are sporadically encountered in dogs during normal clinical practice. Literature concerning their diagnosis and management in canine species is poor. Sometimes, the diagnosis and description of congenital limb abnormalities are complicated by the concurrent presence of different malformations in the same limb and the lack of widely accepted classification schemes. In order to improve the knowledge about congenital limb anomalies in dogs, this report describes the clinical and radiographic findings in four dogs affected by unusual congenital forelimb defects, underlying also the importance of reviewing current terminology. Citation: Di Pietro, S.; Rapisarda, G.S.; Cicero, L.; Angileri, V.; Morabito, Abstract: Four dogs were presented with thoracic limb deformity. After clinical and radiographic S.; Cassata, G.; Macrì, F. Four Unusual examinations, a diagnosis of congenital malformations was performed for each of them.
    [Show full text]
  • Craniosynostosis Syndromes
    Craniosynostosis Syndromes Carolyn Dicus Brookes, DMD, MD, Brent A. Golden, DDS, MD, Timothy A. Turvey, DDS* KEYWORDS Craniofacial dysostosis Craniosynostosis syndromes Crouzon Apert Pfeiffer Muenke KEY POINTS Craniosynostosis syndromes have wide phenotypic variability. Understanding of the underlying genetic causes continues to develop. Children with these syndromes are best managed at a multidisciplinary craniofacial center. Early management focuses on airway protection, preservation of vision and hearing, and feeding. Timing of craniofacial reconstruction is driven by growth and development of the area of interest. In the past, intellectual disability was assumed. However, many patients with craniofacial dysostosis syndromes live rich lives and have normal or even exceptional intellect provided they are raised in a nurturing, stimulating environment. Craniosynostosis is premature fusion of cranial sutures, and it Crouzon syndrome occurs in 1:2000 to 1:2500 live births.1,2 Most cases are non- syndromic. Craniosynostosis syndromes, more than 150 of Genetics which have been identified, affect 1:25,000 to 1:100,000 in- fants.2,3 The most common are reviewed in this article. FGFR2 mutations Craniosynostosis syndromes are diagnosed based on clinical Autosomal dominant; complete penetrance, variable features. Abnormal head shape and midface deficiency with e expressivity exorbitism are typical craniofacial expressions,1,2,4 6 and Occasionally de novo syndromes with these traits may be called craniofacial dysos- 1.6:100,000; 4.5%
    [Show full text]
  • Table SI. Causative Genes for Primary Ciliopathies. Cytogenetic OMIM ID
    Table SI. Causative genes for primary ciliopathies. Cytogenetic OMIM ID Gene name location Disease association 600294 ADCY6 12q13.12 Lethal congenital contracture syndrome; arthrogryposis multiplex congenita syndrome 608894 AHI1 6q23.3 JBTS 606844 ALMS1 2p13.1 ALMS 615370 ANKS6 9q22.33 NPHP; NPHP with cardiovascular abnormalities, situs inversus and liver fibrosis 608922 ARL13B 3q11.1‑q11.2 JBTS; JBTS with retinal degeneration, obesity 615407 ARL2BP 16q13 RP 604695 ARL3 10q24.32 RP; JBTS 608845 ARL6 3q11.2 BBS; BBS modifier; RP 611150 ATXN10 22q13.31 JBTS; NPHP; spinocerebellar ataxia 614144 B9D1 17p11.2 MKS; JBTS 611951 B9D2 19q13.2 MKS; JBTS 613605 BBIP1 10q25.2 BBS 209901 BBS1 11q13.2 BBS 610148 BBS10 12q21.2 BBS 610683 BBS12 4q27 BBS 606151 BBS2 16q13 BBS 600374 BBS4 15q24.1 BBS 603650 BBS5 2q31.1 BBS 607590 BBS7 4q27 BBS 607968 PTHB1 7p14.3 BBS 603191 C21ORF2 21q22.3 CRD; axial spondylometaphyseal dysplasia 615944 C2CD3 11q13.4 OFD 613425 C2ORF71 2p23.2 RP 614571 C5ORF42 5p13.2 JBTS; OFD; monomelic amyotrophy 614477 C8ORF37 8q22.1 RP; CRD; BBS 612013 CC2D2A 4p15.32 MKS; JBTS; COACH syndrome 610162 CCDC28B 1p35.2 BBS modifier; JBTS 600236 CENPF 1q41 Stromme syndrome 616690 CEP104 1p36.32 JBTS 613446 CEP120 5q23.2 SRTD; JBTS 614848 CEP164 11q23.3 NPHP with retinal degeneration; probably SLSN, MKS, JBTS 615586 CEP19 3q29 Morbid obesity and spermatogenic failure (MOSPGF) 610142 CEP290 12q21.32 MKS; BBS; JBTS; LCA; SLSN 610523 CEP41 7q32.2 JBTS; autism spectrum disorder 617110 CEP78 9q21.2 CRD; hearing loss 615847 CEP83 12q22 NPHP; intellectual
    [Show full text]
  • Review Article Cleidocranial Dysplasia: Clinical and Molecular Genetics
    J Med Genet 1999;36:177–182 177 Review article Cleidocranial dysplasia: clinical and molecular genetics Stefan Mundlos Abstract Chinese named Arnold, was probably de- Cleidocranial dysplasia (CCD) (MIM scribed by Jackson.6 He was able to trace 356 119600) is an autosomal dominant skeletal members of this family of whom 70 were dysplasia characterised by abnormal aVected with the “Arnold Head”. CCD was clavicles, patent sutures and fontanelles, originally thought to involve only bones of supernumerary teeth, short stature, and a membranous origin. More recent and detailed variety of other skeletal changes. The dis- clinical investigations have shown that CCD is ease gene has been mapped to chromo- a generalised skeletal dysplasia aVecting not some 6p21 within a region containing only the clavicles and the skull but the entire CBFA1, a member of the runt family of skeleton. CCD was therefore considered to be transcription factors. Mutations in the a dysplasia rather than a dysostosis.7 Skeletal CBFA1 gene that presumably lead to syn- abnormalities commonly found include cla- thesis of an inactive gene product were vicular aplasia/hypoplasia, bell shaped thorax, identified in patients with CCD. The func- enlarged calvaria with frontal bossing and open tion of CBFA1 during skeletal develop- fontanelles, Wormian bones, brachydactyly ment was further elucidated by the with hypoplastic distal phalanges, hypoplasia of generation of mutated mice in which the the pelvis with widened symphysis pubis, Cbfa1 gene locus was targeted. Loss of one severe dental anomalies, and short stature. The Cbfa1 allele (+/-) leads to a phenotype very changes suggest that the gene responsible is not similar to human CCD, featuring hypo- only active during early development, as plasia of the clavicles and patent fonta- implied by changes in the shape or number of nelles.
    [Show full text]
  • EUROCAT Syndrome Guide
    JRC - Central Registry european surveillance of congenital anomalies EUROCAT Syndrome Guide Definition and Coding of Syndromes Version July 2017 Revised in 2016 by Ingeborg Barisic, approved by the Coding & Classification Committee in 2017: Ester Garne, Diana Wellesley, David Tucker, Jorieke Bergman and Ingeborg Barisic Revised 2008 by Ingeborg Barisic, Helen Dolk and Ester Garne and discussed and approved by the Coding & Classification Committee 2008: Elisa Calzolari, Diana Wellesley, David Tucker, Ingeborg Barisic, Ester Garne The list of syndromes contained in the previous EUROCAT “Guide to the Coding of Eponyms and Syndromes” (Josephine Weatherall, 1979) was revised by Ingeborg Barisic, Helen Dolk, Ester Garne, Claude Stoll and Diana Wellesley at a meeting in London in November 2003. Approved by the members EUROCAT Coding & Classification Committee 2004: Ingeborg Barisic, Elisa Calzolari, Ester Garne, Annukka Ritvanen, Claude Stoll, Diana Wellesley 1 TABLE OF CONTENTS Introduction and Definitions 6 Coding Notes and Explanation of Guide 10 List of conditions to be coded in the syndrome field 13 List of conditions which should not be coded as syndromes 14 Syndromes – monogenic or unknown etiology Aarskog syndrome 18 Acrocephalopolysyndactyly (all types) 19 Alagille syndrome 20 Alport syndrome 21 Angelman syndrome 22 Aniridia-Wilms tumor syndrome, WAGR 23 Apert syndrome 24 Bardet-Biedl syndrome 25 Beckwith-Wiedemann syndrome (EMG syndrome) 26 Blepharophimosis-ptosis syndrome 28 Branchiootorenal syndrome (Melnick-Fraser syndrome) 29 CHARGE
    [Show full text]
  • The Nager Acrofacial Dysostosis Syndrome with the Tetralogy of Fallot E THOMPSON*, R Cadburyt, and M BARAITSER*
    J Med Genet: first published as 10.1136/jmg.22.5.408 on 1 October 1985. Downloaded from 408 Case reports successfully operated upon in the neonatal period. 5 Hecht F, Hecht BK, O'Keeffe D. Sacrococcygeal teratoma: Antenatal examination should be able to define the prenatal diagnosis with elevated alpha-fetoprotein and acetyl- cholinesterase in amniotic fluid. Prenatal Diagnosis 1982;2: seriousness of the defect and allow discussion and 229-31. consideration of the various options in the light of 6 Horger EO, McCarter LM. Prenatal diagnosis of sacrococcygeal others' experiences. Therefore, such cases should be teratoma. Am J Obstet Gynecol 1979;134:228-9. investigated in centres for antenatal diagnosis and 7 Papp Z, Polgar K, T6th Z, Csecsei K. Prenatal diagnosis of neural tube defects by exfoliative cytology of amniotic fluid. individual cases managed on their own merits, Acta Cytol (Baltimore) 1982;26:751-2. allowing for the particular circumstances of the case. 8 Polgar K, Sipka S, Abel GY, Papp Z. Neutral-red uptake by amniotic fluid macrophages in neural tube defects: a rapid test. References N Engl J Med 1984;310:1463-4. Brock DJH, Richmond DH, Listen WA. Normal second- Bergsma D, ed. Birth defects compendium. 2nd ed. New York: trimester amniotic fluid alpha-fetoprotein and acetylcholinester- MacMillan Press, 1979:948. ase associated with fetal sacrococcygeal teratoma. Prenatal 2 Schmid W, Miihlethaler JP. High amniotic fluid alphafetopro- Diagnosis 1983;3:343-5. tein in a case of fetal sacrococcygeal teratoma. Humangenetik Kohn J, Orr H, McElwain TJ, Bentall M, Peckham MJ. Serum 1975;26:353-4.
    [Show full text]