Congenital brain and facial anomalies in the D1 trisomy syndrome--report of a case and a review of literature--.
On 58 cases of D1 trisomy, which were classified as those with seven separate D chromosomes, including the one in this report, congenital brain and facial anomalies were reviewed and discussed. Congenital brain defects in this syndrome might be classified into three groups: (I) grossly normal brain, (II) absence of olfactory bulbi and tracts, but normally-separated cerebral hemisphere, and (III) completely or incompletely uncleaved hemispheres with absence of olfactory bulbi and tracts. 25.9% of the cases were found in group I, 56.9% in group II, and 17.2% in group III, respectively. Although facial anomalies predicted the brain defects in group III, malformations of the face were not concerned with the brain defects in group I and II. There were no cases with both, normal brain and face.
D001921:Brain / Q000002:abnormalities*; D002901:Chromosomes, Human, 13-15; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome; D014314:Trisomy