Tel Hashomer camptodactyly syndrome: a case report.
West Indian Med J
; 62(1): 81-3, 2013 Jan.
Article
em En
| MEDLINE
| ID: mdl-24171333
ABSTRACT
Tel Hashomer camptodactyly syndrome (THCS) is a rare autosomal recessive camptodactyly with muscular involvement. The manifestations of THCS other than camptodactyly are clubbed feet, thenar and hypothenar hypoplasia, abnormal palmar creases and dermatoglyphic ridges, spina bifida and mitral valve prolapse. The syndrome was first described by Goodman et al in 1972 and thereafter two further cases with similar phenotype were seen. Herein, we present another case report and review of the literature of other syndromes associated with camptodactyly and mitral valve prolapse. Further cases with this syndrome need to be reported for mapping of the candidate loci. This will help in planning management and genetic counselling.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Deformidades Congênitas da Mão
/
Modalidades de Fisioterapia
/
Procedimentos Ortopédicos
/
Comunicação Interatrial
/
Hirsutismo
/
Doenças Musculares
Tipo de estudo:
Diagnostic_studies
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article