A fetus suggesting an extension of theXK-aprosencephaly spectrum phenotype.
We report a fetus with atelencephaly, bilateral radial aplasia/hypoplasia, ventriculoseptal defect and megacolon, this combination of anomalies being consistent with the diagnosis of XK-aprosencephaly syndrome. The facial dysmorphology of this fetus differs from that previously reported and together with reports on overlapping phenotypes suggests an extension of the XK-aprosencephaly spectrum.
Kajantie
E
E
Ammälä
P
P
Salonen
R
R
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D037881:Aborted Fetus / Q000002:abnormalities; D001921:Brain / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008297:Male; D008531:Megacolon / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D010641:Phenotype; D011247:Pregnancy; D011884:Radius / Q000002:abnormalities; D016216:Ultrasonography, Prenatal