Separating Pena-Shokeir I syndrome from the "arthrogryposis basket".
The Pena-Shokeir I syndrome is characterized by prenatal onset of growth deficiency, a specific constellation of facial features, multiple ankyloses, camptodactyly, and talipes equinovarus and is almost invariably fatal. A common and perhaps specific radiographic sign is that of subluxations at interphalangeal joints of the fingers, present in four of six patients described here. This autosomal recessive syndrome should be differentiated from arthrogryposis multiplex congenita on the basis of the unusual facial configuration and early lethality, even when interphalangeal subluxations are absent.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D001176:Arthrogryposis / Q000000981:diagnostic imaging*; D001842:Bone and Bones / Q000002:abnormalities*; D003937:Diagnosis, Differential; D005149:Facial Expression; D005260:Female; D006130:Growth Disorders / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D004204:Joint Dislocations / Q000151:congenital* / Q000000981:diagnostic imaging; D008297:Male; D011859:Radiography; D013577:Syndrome