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Tel Hashomer camptodactyly syndrome: a case report
K Shah1, R Sreekanth, B Thomas
1Department of Clinical Genetics, Christian Medical College, Vellore, India. kratishah@yahoo.co.in
Tel Hashomer camptodactyly syndrome (THCS) is a rare genetic disorder affecting limbs and heart. Further research is needed to map gene locations for better genetic counseling and management of this rare condition.
Area of Science:
- Genetics
- Rare Diseases
- Pediatric Medicine
Background:
- Tel Hashomer camptodactyly syndrome (THCS) is a rare autosomal recessive disorder.
- It is characterized by camptodactyly (bent fingers) and muscular involvement.
Observation:
- THCS presents with additional anomalies: clubbed feet, thenar/hypothenar hypoplasia, abnormal palmar creases, spina bifida, and mitral valve prolapse.
- The syndrome was initially described in 1972, with only a few subsequent cases reported.
Findings:
- This report details a new case of THCS and reviews literature on similar syndromes.
- The review focuses on camptodactyly associated with mitral valve prolapse.
Implications:
- Reporting more cases is crucial for mapping candidate gene loci for THCS.
- Identifying the genetic basis will aid in developing effective management strategies and genetic counseling for affected families.
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