MULTIPLE CONGENITAL-MALFORMATIONS IN 2 SIBS REMINISCENT OF HYDROCEPHALUS AND PSEUDOTRISOMY-13 SYNDROMES

We report on two sibs, born to consanguineous parents, with defects of the midline including cleft lip and palate, flat nose, hypotelorism, and dysgenesis of corpus callosum, in addition to short limbs, radiolu cent tibial notch, digital anomalies, ambiguous genitalia, and hypopit uitarism. In spite of the similarities between this condition and the hydrolethalus and pseudotrisomy 13 syndromes, our patients had neither preaxial nor postaxial polydactyly, but had previously undescribed bi lateral radiolucent tibial notch, which is not known to be part of tho se two syndromes. The cases presented here may very well represent a n ew autosomal recessive syndrome. (C) 1995 Wiley-Liss, Inc.