Bony and vascular anomalies of the head. Their possible relation to anencephaly.
This study links a midfacial anomaly in an 8-year-old boy, with underlying bony skull defects and abnormalities of the cerebral vasculature, with an earlier spontaneous miscarriage and the subsequent birth of a frankly anencephalic sibling. We believe that the midfacial and vascular anomalies in the second child could represent a forme fruste of anencephaly, which should alert the physician to monitor subsequent pregnancies for the complete anencephalic phenotype.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000757:Anencephaly / Q000235:genetics*; D001158:Arteries / Q000002:abnormalities; D001921:Brain / Q000098:blood supply*; D002648:Child; D006801:Humans; D008297:Male; D012886:Skull / Q000002:abnormalities*