Ehlers Danlos syndrome--masquerading as primary muscle disease.
A 9 year old Libyan boy presented with a history of delayed walking and abnormal gait. The presence of marked muscle under-development with hypotonia led to the initial diagnosis of primary muscle disease; later, he was found to have hyperelastic, fragile skin and hypermobile joints-the cardinal features of Ehlers Danlos syndrome. In this instance the disease seems to have been inherited in an autosomal recessive manner.
Banerjee
G
G
Department of Pediatrics, Faculty of Medicine, Al-Arab Medical University, Benghazi, Libya.
Agarwal
R K
RK
Shembesh
N M
NM
el Mauhoub
M
M
D002648:Child; D003937:Diagnosis, Differential; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D009135:Muscular Diseases / Q000175:diagnosis*