Bilateral femoral dysgenesis with micrognathia, cleft palate, anomalies of the spine and pelvis, and foot deformities. Clinical and radiological findings.
Two girls afflicted with bilateral femoral hypoplasia, micrognathia, cleft palate, anomalies of the spine and pelvis, and foot deformities are reported. Based on 10 cases reported in the literature the following points are emphasized: 1. Femoral hypoplasia may be bilateral or unilateral. 2. Many patients show asymmetrical changes. 3. To our knowledge, the complete syndrome including a cleft palate has been reported only in females. 4. Femoral hypoplasia without a cleft palate may represent a different entity, of possibly autosomal dominant inheritance, or may occur in children of diabetic mothers.
D002675:Child, Preschool; D002972:Cleft Palate / Q000175:diagnosis*; D003025:Clubfoot / Q000175:diagnosis; D005260:Female; D005269:Femur / Q000002:abnormalities*; D005413:Flatfoot / Q000175:diagnosis; D005532:Foot Deformities, Congenital; D006618:Hip Dislocation, Congenital / Q000175:diagnosis; D006801:Humans; D007223:Infant; D007870:Leg Length Inequality / Q000175:diagnosis; D008844:Micrognathism / Q000175:diagnosis*; D010384:Pelvic Bones / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities*