DOCSLIB.ORG

Free PDF Download

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read 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. line phosphatase (ALP), thyroid function tests (TFT) and urine tests were all within normal Key Words: limits. In the radiological examination, short - Brachydactyly, Skeletal disorders, Pseudo-hypopara - rd thyroidism. ness of the metacarpal was seen in the 3 and 4th fingers of the right hand and in the 4 th finger of the left hand (Figure 3). In addition, there was bluntness and shortness in the distal pha - Introduction lanx of the thumb on both hands. In the lateral thoracolumbar radiograph, wedging in the tho - Brachydactyly (short digits) is a general term racic vertebrae and increased kyphosis were de - describing extremity malformations characteri - termined. sed by bone dysostosis, with the meaning of dis - proportional shortness in the fingers and toes which develops due to smallness or absence of Discussion metacarpals, metatarsals or phalanxes. Just as brachydactyly may be an isolated malformation, Brachydactyly is a general term describing ex - it may also be a part of a complex malformation tremity malformations characterised by bone syndrome 1. Isolated brachydactyly was first clas - dysostosis, with the meaning of disproportional sified in 1951 by J Bell 2 according to phenotypic shortness in the fingers and toes which develops characteristic digit and bone involvement . due to smallness or absence of metacarpals, me - The case examined here in the light of relevant tatarsals or phalanxes 1. Previous studies have literature is of a 35-year old female patient who shown that bone morphogenic (BMP) pathways presented with complaints of back pain with iso - play a key role in the normal development of di - lated brachydactyly which was classified as a gits and their joints and that these pathways are combination of D and E types. associated directly or indirectly with the genes of brachydactyly disease 3. Case Report Just as brachydactyly may be an isolated mal - A 35-year old female patient presented with formation, it may also be a part of a complex complaints of back pain. In the first physical malformation syndrome 1. Brachydactyly was Corresponding Author: Tuba Tülay Koca, MD; e-mail: [email protected] 4549 T. Tülay Koca, F. Çileda ğ Özdemir Figure 3. Shortness in the metacarpals of the 3 rd and 4 th fingers of the right hand and 4 th finger of the left hand can be seen in conventional radiography. lanxes and ulnar deviation in the 2 nd finger, type D: shortness or widening in the distal phalanx of the 1 st digit of the hand or foot, type E: shortness in one or more metacarpal or metatarsal 1. The classification was modified by Temtamy Figure 1. Shortness in the 3 rd and 4 th fingers of the right and McKusick 4 in 1978. Brachydactyly, defined hand, 4 th finger of the left hand and widening in the distal genetically from genetic skeletal impairments, phalanx of both thumbs can be seen. has been included in the dysostosis group. As the case presented here had shortness in first classified in 1951 by Bell 2 according to phe - more than one metacarpal or metatarsal, the pa - notypic characteristics of digit and bone involve - tient was classified as type E. In addition, type ment . D brachydactyly was seen in the bluntness of According to this classification, type A, short - the distal phalanx of the thumb and phenotypic ness in the middle phalanxes of the digits; type kyphotic posture was observed associated with B, absence of or shortness of the mid and distal wedging in the thoracic vertebrae. There are phalanxes of the digits together with deformity in very few cases in literature of types D and E to - the thumbs and big toes; type C, shortness in the gether. mid and proximal phalanxes of the 2 nd and 3 rd Brachydactyly may also be seen together with fingers, hypersegmentation in the proximal pha - other hand malformations such as syndactyly, polydactyly, shortness and symphalangism. Gene defects have been defined in the vast majority of isolated and syndromic forms. The transfer in isolated brachydactyly is autosomal dominant with different expressivity and penetration 1,5 . Currently, there are many forms of brachy - dactyly which have been defined. Subtypes of brachydactyly show high phenotypic variations. Apart from types A3 and D, isolated forms of brachydactyly are rare. Although variations are shown in all individuals, hand involvement is the dominant characteristic. However, apart from hand involvement, short stature, shoulder dyspla - sia, wedging in the vertebrae, radioulnar and hu - Figure 2. Clinodactyly with brachdactyly in the 4th toe of meroulnar joint anomalies, Madelung deformity, the left foot can be seen. epiphyseal changes, toe anomalies and facial 4550 Concomitance of types D and E brachydactyly: a case report anomalies have been reported 6,7 . In the case pre - is suggested. In a genetic study by KD Williams sented here, a wide variability of brachydactyly et al 10 , a strong relationship was determined be - with hand and foot involvement and thoracic ween chromosome 7p21-7p14 and types D and E wedging was found to contribute to the clinical brachydactyly. phenotype. The current case constitutes an example of ty - Type C brachydactyly is characterised by pical extremity involvement for type E isolated shortness in the mid phalanxes of the index, form. In addition, widening in the distal phalanx middle and little fingers. Shortness may be seen of the first finger in both hands demonstrated the in the first metacarpal in most phalanxes of the characteristic of type D brachydactyly. Therefo - index and middle fingers, which is known as hy - re, it was seen to be appropriate to evaluate the perphalangy or hypersegmentation 8,9 . patient as a combination of non-syndromic types Type E brachydactyly is separated into isola - D and E. ted and syndromic forms. The syndromic form The diagnosis of brachydactyly is made clini - type E brachydactyly occurs in 70-78% of pseu - cally, anthropometrically and radiologically. For dohypoparathyroid patients, and with type E bra - isolated forms a prenatal diagnosis is not neces - chydactyly pseudohypoparathyroidism may be sary, whereas there may be a need in syndromic seen to be part of a complex syndrome such as forms. If there is familial genetic mutation, ante - short stature, mental retardation and hypertensi - natal diagnosis can be made in the 11 th week on. Resistance to parathyroid hormones more at from chorionic villus samples and in the 14 th the thyroid and renal tubule level and associated week from amniocentesis. There is no specific with that, the pseudohypoparathyroidism which approach or treatment choice for all forms of bra - develops, is the most evident clinical characteris - chydactyly. If brachydactyly affects the hand tic. While shortness is seen in all the bones of the functions or leads to cosmetic problems, plastic hand in some patients, in the majority, involve - surgery may be required. Physiotherapy and er - ment is more in the metacarpals and distal pha - gotherapy are useful in the improvement of hand lanxes. As there was shortness in more than one functions. Prognosis varies between different metacarpal and metatarsal, the current patient forms with prognosis in syndromic forms asso - was seen to be consistent with the type E classifi - ciated with the related anomalies 1,4,5,9 . cation and the TFT and PTH levels were normal. Moreover, short stature and mental retardation were not considered 9,10 . Hypocalcemia and hy - Conclusions perphosphatemia may develop in these cases. As a result of the laboratory and clinical evaluation Brachydactyly is a bone dysostosis which of the current patient, syndromic form brachy - shows high phenotypic variability with isolated dactyly was not considered. and syndromic forms. Type E brachydactyly in In isolated type E brachydactyly, four heterozy - particular may show syndromic properties cha - gote mutation has been determined in the homebox racterised by pseudohypothyroidism which deve - C13 gene (HOXD 13, 2q31.1). Phenotypically, lops associated with resistance to PTH and thy - syndactyly in the 3 rd and 4 th fingers, synopoly - roid hormones. In addition, it may be seen in dactyly in the 5 th finger and long distal phalanxes combination with type D brachydactyly.
Load more

Recommended publications
  • A Novel Locus for Brachydactyly Type A1 on Chromosome 5P13.3-P13.2 C M Armour, M E Mccready, a Baig,Agwhunter, D E Bulman
    186 LETTERS TO JMG J Med Genet: first published as 10.1136/jmg.39.3.189 on 1 March 2002. Downloaded from A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2 C M Armour, M E McCready, A Baig,AGWHunter, D E Bulman ............................................................................................................................. J Med Genet 2002;39:186–189 he brachydactylies are a group of inherited disorders METHODS characterised by shortened or malformed digits that are The linkage study comprised 34 members including 20 Tthought to be the result of abnormal growth of the affected subjects and was conducted after approval by the phalanges and/or metacarpals. First classified by Bell into Children’s Hospital of Eastern Ontario Ethics Review Com- types A, B, C, D, and E, they were reclassified by Temtamy and mittee. McKusick1 and Fitch.2 Brachydactyly type A1 (BDA1, MIM Peripheral blood samples were taken with informed 112500) is characterised by shortened or absent middle consent from all participating family members, and a stand- phalanges. Often the second and fifth digits, as well as the first ard protocol was used to isolate DNA. A genome wide scan proximal phalanx, are the most severely affected. In addition, was initiated using 36 primer sets from the MAPPAIRS™ all of the small tubular bones tend to be reduced in size and microsatellite markers (Research Genetics, Huntsville, Ala- the metacarpals may be shortened, particularly the fifth bama), encompassing markers from 16 chromosomes. metacarpal. Radial/ulnar clinodactyly, as well as malformed or Particular emphasis was placed on markers from chromo- 11 absent epiphyses, have also been reported.12 Complex some 5 and 17, based on the report by Fukushima et al syndromes have been described in which BDA1 is one of a describing a translocation between 5q11.2 and 17q23 in a girl number of manifestations.3 with Klippel-Feil anomaly and BDA1.
    [Show full text]
  • 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]
  • The Genetic Heterogeneity of Brachydactyly Type A1: Identifying the Molecular Pathways
    The genetic heterogeneity of brachydactyly type A1: Identifying the molecular pathways Lemuel Jean Racacho Thesis submitted to the Faculty of Graduate Studies and Postdoctoral Studies in partial fulfillment of the requirements for the Doctorate in Philosophy degree in Biochemistry Specialization in Human and Molecular Genetics Department of Biochemistry, Microbiology and Immunology Faculty of Medicine University of Ottawa © Lemuel Jean Racacho, Ottawa, Canada, 2015 Abstract Brachydactyly type A1 (BDA1) is a rare autosomal dominant trait characterized by the shortening of the middle phalanges of digits 2-5 and of the proximal phalange of digit 1 in both hands and feet. Many of the brachymesophalangies including BDA1 have been associated with genetic perturbations along the BMP-SMAD signaling pathway. The goal of this thesis is to identify the molecular pathways that are associated with the BDA1 phenotype through the genetic assessment of BDA1-affected families. We identified four missense mutations that are clustered with other reported BDA1 mutations in the central region of the N-terminal signaling peptide of IHH. We also identified a missense mutation in GDF5 cosegregating with a semi-dominant form of BDA1. In two families we reported two novel BDA1-associated sequence variants in BMPR1B, the gene which codes for the receptor of GDF5. In 2002, we reported a BDA1 trait linked to chromosome 5p13.3 in a Canadian kindred (BDA1B; MIM %607004) but we did not discover a BDA1-causal variant in any of the protein coding genes within the 2.8 Mb critical region. To provide a higher sensitivity of detection, we performed a targeted enrichment of the BDA1B locus followed by high-throughput sequencing.
    [Show full text]
  • Genetics of Congenital Hand Anomalies
    G. C. Schwabe1 S. Mundlos2 Genetics of Congenital Hand Anomalies Die Genetik angeborener Handfehlbildungen Original Article Abstract Zusammenfassung Congenital limb malformations exhibit a wide spectrum of phe- Angeborene Handfehlbildungen sind durch ein breites Spektrum notypic manifestations and may occur as an isolated malforma- an phänotypischen Manifestationen gekennzeichnet. Sie treten tion and as part of a syndrome. They are individually rare, but als isolierte Malformation oder als Teil verschiedener Syndrome due to their overall frequency and severity they are of clinical auf. Die einzelnen Formen kongenitaler Handfehlbildungen sind relevance. In recent years, increasing knowledge of the molecu- selten, besitzen aber aufgrund ihrer Häufigkeit insgesamt und lar basis of embryonic development has significantly enhanced der hohen Belastung für Betroffene erhebliche klinische Rele- our understanding of congenital limb malformations. In addi- vanz. Die fortschreitende Erkenntnis über die molekularen Me- tion, genetic studies have revealed the molecular basis of an in- chanismen der Embryonalentwicklung haben in den letzten Jah- creasing number of conditions with primary or secondary limb ren wesentlich dazu beigetragen, die genetischen Ursachen kon- involvement. The molecular findings have led to a regrouping of genitaler Malformationen besser zu verstehen. Der hohe Grad an malformations in genetic terms. However, the establishment of phänotypischer Variabilität kongenitaler Handfehlbildungen er- precise genotype-phenotype correlations for limb malforma- schwert jedoch eine Etablierung präziser Genotyp-Phänotyp- tions is difficult due to the high degree of phenotypic variability. Korrelationen. In diesem Übersichtsartikel präsentieren wir das We present an overview of congenital limb malformations based Spektrum kongenitaler Malformationen, basierend auf einer ent- 85 on an anatomic and genetic concept reflecting recent molecular wicklungsbiologischen, anatomischen und genetischen Klassifi- and developmental insights.
    [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]
  • Craniofacial Development After Three Different Palatoplasties in Children Born with Isolated Cleft Palate
    From the DEPARTMENT OF DENTAL MEDICINE Karolinska Institutet, Stockholm, Sweden CRANIOFACIAL DEVELOPMENT AFTER THREE DIFFERENT PALATOPLASTIES IN CHILDREN BORN WITH ISOLATED CLEFT PALATE Konstantinos A. Parikakis Stockholm 2018 All previously published papers were reproduced with permission from the publisher Published by Karolinska Institutet Printed by Eprint AB 2018 © Konstantinos A. Parikakis, 2018 ISBN 978-91-7831-277-1 Craniofacial development after three different palatoplasties in children born with isolated cleft palate THESIS FOR DOCTORAL DEGREE (Ph.D.) By Konstantinos A. Parikakis Principal Supervisor: Opponent: Associate Professor Agneta Karsten Professor David Rice Karolinska Institutet University of Helsinki Department of Dental Medicine Department of Orthodontics Division of Orthodontics and Pedodontics Examination Board: Co-supervisor(s): Associate Professor Magnus Becker Associate Professor Ola Larson University of Lund Karolinska University Hospital Department of Plastic and Reconstructive Surgery Department of Reconstructive Plastic Surgery Professor Britt Gustafsson Karolinska Institutet Department of Clinical Science, Intervention and Technology (CLINTEC) Division of Pediatrics Associate Professor Farhan Bazargani University of Örebro Centrum för Specialisttandvard Department of Orthodontics To Christina, little Anastasios and…forthcoming Vassilios “Wherever the art of Medicine is loved, there is also a love of Humanity” Hippocrates of Kos, c.460-370 B.C. ABSTRACT Introduction: Different palatoplasties are applied for
    [Show full text]
  • Appendix A: Organisation of a Craniofacial Unit
    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.
    [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]
  • Blueprint Genetics Craniosynostosis Panel
    Craniosynostosis Panel Test code: MA2901 Is a 38 gene panel that includes assessment of non-coding variants. Is ideal for patients with craniosynostosis. About Craniosynostosis Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape. It may result from a primary defect of ossification (primary craniosynostosis) or, more commonly, from a failure of brain growth (secondary craniosynostosis). Premature closure of the sutures (fibrous joints) causes the pressure inside of the head to increase and the skull or facial bones to change from a normal, symmetrical appearance resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome with a variety of inheritance patterns and reccurrence risks. Craniosynostosis occurs in 1/2,200 live births. Availability 4 weeks Gene Set Description Genes in the Craniosynostosis Panel and their clinical significance Gene Associated phenotypes Inheritance ClinVar HGMD ALPL Odontohypophosphatasia, Hypophosphatasia perinatal lethal, AD/AR 78 291 infantile, juvenile and adult forms ALX3 Frontonasal dysplasia type 1 AR 8 8 ALX4 Frontonasal dysplasia type 2, Parietal foramina AD/AR 15 24 BMP4 Microphthalmia, syndromic, Orofacial cleft AD 8 39 CDC45 Meier-Gorlin syndrome 7 AR 10 19 EDNRB Hirschsprung disease, ABCD syndrome, Waardenburg syndrome AD/AR 12 66 EFNB1 Craniofrontonasal dysplasia XL 28 116 ERF Craniosynostosis 4 AD 17 16 ESCO2 SC phocomelia syndrome, Roberts syndrome
    [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]
  • Polydactyly of the Hand
    A Review Paper Polydactyly of the Hand Katherine C. Faust, MD, Tara Kimbrough, BS, Jean Evans Oakes, MD, J. Ollie Edmunds, MD, and Donald C. Faust, MD cleft lip/palate, and spina bifida. Thumb duplication occurs in Abstract 0.08 to 1.4 per 1000 live births and is more common in Ameri- Polydactyly is considered either the most or second can Indians and Asians than in other races.5,10 It occurs in a most (after syndactyly) common congenital hand ab- male-to-female ratio of 2.5 to 1 and is most often unilateral.5 normality. Polydactyly is not simply a duplication; the Postaxial polydactyly is predominant in black infants; it is most anatomy is abnormal with hypoplastic structures, ab- often inherited in an autosomal dominant fashion, if isolated, 1 normally contoured joints, and anomalous tendon and or in an autosomal recessive pattern, if syndromic. A prospec- ligament insertions. There are many ways to classify tive San Diego study of 11,161 newborns found postaxial type polydactyly, and surgical options range from simple B polydactyly in 1 per 531 live births (1 per 143 black infants, excision to complicated bone, ligament, and tendon 1 per 1339 white infants); 76% of cases were bilateral, and 3 realignments. The prevalence of polydactyly makes it 86% had a positive family history. In patients of non-African descent, it is associated with anomalies in other organs. Central important for orthopedic surgeons to understand the duplication is rare and often autosomal dominant.5,10 basic tenets of the abnormality. Genetics and Development As early as 1896, the heritability of polydactyly was noted.11 As olydactyly is the presence of extra digits.
    [Show full text]