title: Multiple congenital malformations in two sibs reminiscent of hydrolethalus and pseudotrisomy 13 syndromes.
abstract: 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, radiolucent tibial notch, digital anomalies, ambiguous genitalia, and hypopituitarism. 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 bilateral radiolucent tibial notch, which is not known to be part of those two syndromes. The cases presented here may very well represent a new autosomal recessive syndrome.
authors.affiliation: Department of Pediatrics, King Khalid University Hospital, Riyadh, Saudi Arabia.
authors.forename: M Y
authors.initials: MY
authors.lastname: Dincsoy
authors.forename: M A
authors.initials: MA
authors.lastname: Salih
authors.forename: N
authors.initials: N
authors.lastname: al-Jurayyan
authors.forename: M
authors.initials: M
authors.lastname: al Saadi
authors.forename: P J
authors.initials: PJ
authors.lastname: Patel
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002882:Chromosomes, Human, Pair 13; D002971:Cleft Lip; D002972:Cleft Palate; D003241:Consanguinity; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014314:Trisomy