Pelvic dysplasia associated with arthrogrypotic changes in the lower extremities. A new syndrome.
Two sisters exhibit arthrogrypotic changes in the lower extremities associated with a previously undescribed pelvic dysplasia. The pelvic dysplasia is characterized by: severe abnormalities of ossification with markedly widened triradiate cartilages; irregular, notched acetabulae; marked hypoplasia of the ilia; notching of the iliac wings; and delayed ossification of the capital femoral ossific nucleus. The elder girl has bilateral clubfeet, as well as flexion contractures of both knees. The younger girl has a right talipes equinovarus and left hip dislocation. Autosomal recessive inheritance is suggested. This distinctive syndrome should be considered in the differential diagnosis of the patient with arthrogryposis.
D001176:Arthrogryposis / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D001848:Bone Diseases, Developmental / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D010384:Pelvic Bones / Q000000981:diagnostic imaging*; D011859:Radiography; D013577:Syndrome