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.
MeSH terms
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Adult
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Clubfoot / physiopathology
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Creatine Kinase / blood
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Dermatoglyphics
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Diagnosis, Differential
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Electromyography / methods
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Hand / diagnostic imaging
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Hand Deformities, Congenital* / diagnosis
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Hand Deformities, Congenital* / genetics
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Hand Deformities, Congenital* / physiopathology
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Hand Deformities, Congenital* / therapy
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Heart Septal Defects, Atrial* / diagnosis
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Heart Septal Defects, Atrial* / genetics
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Heart Septal Defects, Atrial* / physiopathology
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Heart Septal Defects, Atrial* / therapy
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Hirsutism* / diagnosis
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Hirsutism* / genetics
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Hirsutism* / physiopathology
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Hirsutism* / therapy
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Humans
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Male
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Mitral Valve Insufficiency / diagnostic imaging
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Mitral Valve Prolapse / diagnostic imaging
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Muscular Diseases* / diagnosis
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Muscular Diseases* / genetics
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Muscular Diseases* / physiopathology
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Muscular Diseases* / therapy
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Neural Conduction
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Orthopedic Procedures / methods*
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Pedigree
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Physical Therapy Modalities*
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Radiography
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Treatment Outcome
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Ultrasonography
Supplementary concepts
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Tel Hashomer camptodactyly syndrome