title: A fetus suggesting an extension of theXK-aprosencephaly spectrum phenotype.
abstract: 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.
authors.forename: E
authors.initials: E
authors.lastname: Kajantie
authors.forename: P
authors.initials: P
authors.lastname: Ammälä
authors.forename: R
authors.initials: R
authors.lastname: Salonen
mesh_terms: 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