Congenital myopathy with oculo-facial and skeletal abnormalities.
A case report is presented of a boy with congenital myopathy associated with oculo-facial and skeletal abnormalities. The relationship of this case to patients with the Schwartz-Jampel and Marden-Walker syndromes is discussed.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001842:Bone and Bones / Q000002:abnormalities*; D002675:Child, Preschool; D003394:Craniofacial Dysostosis / Q000150:complications; D005145:Face; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009132:Muscles / Q000002:abnormalities*; D010641:Phenotype; D013577:Syndrome