title: Exencephaly in autosomal dominant brachydactyly syndrome.
abstract: Exencephaly was diagnosed at 17 weeks in a 27-year-old primigravida with abnormalities of the hands and a family history suggestive of autosomal dominant brachydactyly and clinodactyly. In this family there was also a history of 'anencephaly'. To our knowledge, this is the first report on the association of exencephaly and autosomal dominant brachydactyly. As the relationship between hand and cranial anomalies is well established, we suggest that this association in our case could be due to a defect in the same gene.
authors.affiliation: Royal Postgraduate Medical School, Institute of Obstetrics and Gynaecology, Queen Charlotte's and Chelsea Hospital, London, U.K.
authors.forename: K D
authors.initials: KD
authors.lastname: Stagiannis
authors.forename: W
authors.initials: W
authors.lastname: Sepulveda
authors.forename: L
authors.initials: L
authors.lastname: Fusi
authors.forename: C
authors.initials: C
authors.lastname: Garrett
authors.forename: N M
authors.initials: NM
authors.lastname: Fisk
mesh_terms: D000328:Adult; D000757:Anencephaly / Q000000981:diagnostic imaging* / Q000235:genetics; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D030342:Genetic Diseases, Inborn / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D010375:Pedigree; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal