title: A severe case of facioscapulohumeral muscular dystrophy (FSHD) with some uncommon clinical features and a short 4q35 fragment.
abstract: 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.
authors.affiliation: Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, 5 Pawińskiego Street, 02-106 Warsaw, Poland. maldor@cmdik.pan.pl
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Dorobek
authors.forename: Dagmara
authors.initials: D
authors.lastname: Kabzińska
mesh_terms: D001763:Blepharoptosis / Q000209:etiology; D002648:Child; D004247:DNA / Q000235:genetics; D015246:Deoxyribonuclease EcoRI / Q000235:genetics; D004569:Electroencephalography; D004576:Electromyography; D005190:Family; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008141:Lordosis / Q000209:etiology; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000235:genetics* / Q000503:physiopathology*; D014057:Tomography, X-Ray Computed
chemical_list: D004247:DNA; D015246:Deoxyribonuclease EcoRI