| Skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. Only a few cases have been described. Patients have intercalary limb deficiencies (phocomelia sometimes combined with polydactyly, oligodactyly or ectrodactyly), absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia) and skull defects. Additional features may include thoracic dystrophy, unusual facies (dysplastic and large ears, and a high and narrow palate), and genital malformations.Growth and mental development are normal. |
