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Tel Hashomer camptodactyly syndrome: 12‐year follow‐up of a Hungarian patient and review
Author(s) -
Melegh Béla,
Hollódy Katalin,
Aszmann Mária,
Méhes Károly
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30736
Subject(s) - camptodactyly , ductus arteriosus , muscle biopsy , medicine , myofibril , sarcoplasm , biopsy , anatomy , calcium
Tel Hashomer camptodactyly syndrome (THCS) was diagnosed in a 4‐month‐old boy whom we have followed for 12 years. In addition to the characteristic clinical findings, he had preductal coarctation of the aorta, persistent ductus arteriosus, and multiple ventricular septal defects. The electron‐microscopic evaluation of his muscle biopsy showed anomalies of the sarcoplasmic reticulum and mitochondria; the organization of the myofibrils was normal. The morphological findings suggested primary or secondary involvement of neuromuscular signal transduction and involvement of mitochondria in the development of the myopathy in this child. © 2005 Wiley‐Liss, Inc.