title: Cleft lip and palate, characteristic facial appearance, malrotation of the intestine, and lethal congenital heart disease in two sibs: a new autosomal recessive condition?
abstract: A chromosomally normal brother and sister shared a lethal pattern of anomalies including bilateral cleft lip and palate, hypertelorism, flat facial profile, flat occiput, complex congenital heart defect, and malrotation of the intestine. The male was large for gestational age, while his sister was normally grown. The girl had bifid thumbs, but the boy had only minor hand anomalies. These findings are not consistent with any previously recognized syndrome and represent a new condition with probable autosomal recessive inheritance.
authors.affiliation: University of Pittsburgh, Pennsylvania, USA.
authors.forename: E
authors.initials: E
authors.lastname: McPherson
authors.forename: M
authors.initials: M
authors.lastname: Clemens
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D005145:Face / Q000002:abnormalities; D017809:Fatal Outcome; D005260:Female; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007422:Intestines / Q000002:abnormalities; D008297:Male