A severe case of facioscapulohumeral muscular dystrophy (FSHD) with some uncommon clinical features and a short 4q35 fragment

Severe and early facioscapulohumeral muscular dystrophy (FSHD) is relatively rare. In this report, we describe a case of severe, infantile onset FSHD in a patient with asymmetric progressive ptosis and early hyperlordosis. DNA analysis revealed a very short 4q35 allele of 8.6 kb and a somatic mosaicism for the 4q35 deletion detected in a subclinically affected parent of the patient. This case demonstrates difficulties in the management of abnormal posture, especially early hyperlordosis in children with this disorder. (C) 2004 European Paediatric Neurology Society Published by Elsevier Ltd. All rights reserved.