New syndrome in three affected siblings.
A previously undescribed syndrome is reported. Major features include: (1) poorly mineralized calvarium, (2) dysmorphic facies (cleft lip and palate, micrognathia, upturned nares, apparent ocular hypertelorism), and (3) extracranial and musculoskeletal anomalies (absence of cervical vertebrae and clavicles, talipes equilnorvarus, and soft tissue syndactyly). Autosomal recessive inheritance is the most likely mode of transmission. Prenatal diagnosis via ultrasonography wa successful in two fetuses at risk.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D003025:Clubfoot / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008844:Micrognathism / Q000235:genetics; D011296:Prenatal Diagnosis / Q000379:methods; D012886:Skull / Q000002:abnormalities; D013010:Sonication; D013577:Syndrome