New autosomal recessive syndrome of severe microcephaly and skeletal anomalies including posterior rib-gap defects

We describe two 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 show ed in both fetuses: 1) severe intrauterine growth retardation; 2) facial an omalies characterized by severe microcephaly, sloping forehead, low set and posteriorly angulated ears, prominent eyes, down-slanting palpebral fissur es, large nose, small mouth with full lips, and mild microretrognathia; 3) severe brain hypoplasia that was more pronounced in the second fetus; 4) se vere 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); 5) contracture at large joints. No other visceral malf ormations were observed, and chromosomes were normal in patient 2 and paren ts. This phenotype has some similarities with different syndromic entities but an identical malformation syndrome seems not to have been described pre viously. Autosomal recessive inheritance is the most likely cause of this p utative "new syndrome." Am, J. Med. Genet. 80:429-434. 1998. (C) 1998 Wiley -Liss, Inc.