Myotonia, shortness of stature, and hip dysplasia. Schwartz-Jampel syndrome.
D001706:Biopsy; D001842:Bone and Bones / Q000002:abnormalities*; D002675:Child, Preschool; D004392:Dwarfism / Q000150:complications*; D004576:Electromyography; D005132:Eye Manifestations; D005149:Facial Expression; D005260:Female; D006615:Hip / Q000000981:diagnostic imaging; D006618:Hip Dislocation, Congenital / Q000150:complications* / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008297:Male; D008854:Microscopy, Electron; D009132:Muscles / Q000473:pathology; D009222:Myotonia / Q000150:complications* / Q000473:pathology; D011859:Radiography