Microcephaly, Severe, With Skeletal Anomalies Including Posterior Rib-Gap Defects

Duval et al. (1998) described a possibly 'new' autosomal recessive syndrome in 2 female fetuses conceived by a nonconsanguineous couple. The pregnancies were interrupted at 31 and 26 weeks of gestation, respectively, because of severe microcephaly. Postmortem x-ray and autopsy studies showed in both fetuses: (1) severe intrauterine growth retardation; (2) facial anomalies characterized by severe microcephaly, sloping forehead, low-set and posteriorly angulated ears, prominent eyes, downslanting palpebral fissures, large nose, small mouth with full lips, and mild microretrognathia; (3) severe brain hypoplasia that was more pronounced in the second fetus; (4) severe rib hypoplasia with posterior rib-gap defects and, in case 2, hypoplasia of several bones (right clavicle, right radius and ulna, several phalanges of hands and feet); and (5) contracture at large joints. No other visceral malformations were observed, and chromosomes were normal in patient 2 and in the parents.