Tel Hashomer camptodactyly syndrome: report of a case with myopathic features.
A child with the Tel Hashomer camptodactyly syndrome is reported. Although muscle weakness and hypoplasia are reported features of this syndrome, further investigation of muscle function has not previously been carried out. We report a raised creatine kinase and an abnormal electromyogram and muscle biopsy in this syndrome. The histology of the muscle biopsy shows a wide range fibre diameter in type 1 and type 2 fibres with a relative deficiency of type 2b fibres. It is suggested that this condition may be primarily a myopathy.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001706:Biopsy; D002675:Child, Preschool; D003402:Creatine Kinase / Q000097:blood; D004576:Electromyography; D005149:Facial Expression; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome
D003402:Creatine Kinase