title: Sibs with anencephaly, anophthalmia, clefts, omphalocele, and polydactyly: hydrolethalus or acrocallosal syndrome?
abstract: Major characteristics of the acrocallosal syndrome include severe mental retardation, agenesis or hypoplasia of the corpus callosum, and polydactyly of fingers and toes. In the past few years, anencephaly has also been noted, together with other midline defects. We report on a nonconsanguineous, Norwegian couple with a history of two pregnancies with a male and a female fetus, respectively, with anencephaly, median cleft lip and palate, omphalocele, and preaxial polydactyly, suggesting the diagnosis of the acrocallosal syndrome. Both fetuses also lacked eyes and nose, a finding not previously reported in the acrocallosal syndrome. Microphthalmia has been reported in the hydrolethalus syndrome, which may be caused by mutations in the same gene as the acrocallosal syndrome. The present report adds support to the hypothesis that the acrocallosal and hydrolethalus syndromes may be allelic conditions. The family history is consistent with autosomal recessive inheritance.
authors.affiliation: Department of Medical Genetics, Ullevâl University Hospital, Oslo, Norway.
authors.forename: B
authors.initials: B
authors.lastname: Christensen
authors.forename: H G
authors.initials: HG
authors.lastname: Blaas
authors.forename: C V
authors.initials: CV
authors.lastname: Isaksen
authors.forename: B
authors.initials: B
authors.lastname: Roald
authors.forename: K H
authors.initials: KH
authors.lastname: Orstavik
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D061085:Agenesis of Corpus Callosum; D000757:Anencephaly / Q000000981:diagnostic imaging / Q000235:genetics; D000853:Anophthalmos / Q000000981:diagnostic imaging / Q000235:genetics; D002971:Cleft Lip / Q000000981:diagnostic imaging / Q000235:genetics; D002972:Cleft Palate / Q000000981:diagnostic imaging / Q000235:genetics; D003337:Corpus Callosum / Q000000981:diagnostic imaging; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D005808:Genes, Recessive; D006554:Hernia, Umbilical / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D008297:Male; D009666:Nose / Q000002:abnormalities / Q000000981:diagnostic imaging; D009679:Nuclear Family; D017689:Polydactyly / Q000000981:diagnostic imaging / Q000235:genetics; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal