Congenital myopathy with oculo-facial abnormalities (Marden-Walker syndrome).
Marden-Walker syndrome present in the neonatal period is characterized by oculo-facial abnormalities, congenital myopathy, and contractures. A newborn infant with a similar pattern of anomalies is reported, and further evidence for autosomal recessive inheritance as well as new neuropathological findings are included.
Linder
N
N
Department of Pediatrics, Hebrew University, Jerusalem, Israel.
Mathot
I
I
Livoff
A
A
Glass
J
J
Bornstein
I
I
Gross
E
E
Yatsiv
S
S
Sommer
A
A
D003286:Contracture / Q000151:congenital / Q000235:genetics; D005124:Eye Abnormalities / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D009135:Muscular Diseases / Q000151:congenital / Q000235:genetics*; D013577:Syndrome