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Tel Hashomer camptodactyly syndrome: a case report.
- Source :
-
The West Indian medical journal [West Indian Med J] 2013 Jan; Vol. 62 (1), pp. 81-3. - Publication Year :
- 2013
-
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.
- Subjects :
- Adult
Clubfoot physiopathology
Creatine Kinase blood
Dermatoglyphics
Diagnosis, Differential
Electromyography methods
Hand diagnostic imaging
Humans
Male
Mitral Valve Insufficiency diagnostic imaging
Mitral Valve Prolapse diagnostic imaging
Neural Conduction
Pedigree
Radiography
Treatment Outcome
Ultrasonography
Hand Deformities, Congenital diagnosis
Hand Deformities, Congenital genetics
Hand Deformities, Congenital physiopathology
Hand Deformities, Congenital therapy
Heart Septal Defects, Atrial diagnosis
Heart Septal Defects, Atrial genetics
Heart Septal Defects, Atrial physiopathology
Heart Septal Defects, Atrial therapy
Hirsutism diagnosis
Hirsutism genetics
Hirsutism physiopathology
Hirsutism therapy
Muscular Diseases diagnosis
Muscular Diseases genetics
Muscular Diseases physiopathology
Muscular Diseases therapy
Orthopedic Procedures methods
Physical Therapy Modalities
Subjects
Details
- Language :
- English
- ISSN :
- 0043-3144
- Volume :
- 62
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- The West Indian medical journal
- Publication Type :
- Academic Journal
- Accession number :
- 24171333