A. Duval et al., New autosomal recessive syndrome of severe microcephaly and skeletal anomalies including posterior rib-gap defects, AM J MED G, 80(4), 1998, pp. 429-434
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.