title: Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: a new X-linked dominant multiple congenital anomalies syndrome?
abstract: We describe a multiple congenital anomalies (MCA) syndrome dominantly transmitted through three generations. Radial ray abnormalities with wide variability of expression were observed in four female patients. Moreover, a 14-week-gestation male fetus had severe radial ray malformation, anencephaly, unilateral renal agenesis, and a common dorsal mesentery. Results of high-resolution karyotyping were normal in the malformed fetus and his affected mother. Furthermore, several spontaneous abortions of male fetuses had occurred in this pedigree. To our knowledge, a similar association has not been described previously. It could represent a new X-linked dominant MCA syndrome, or an autosomal dominant condition with severe expression limited to males.
authors.affiliation: Consultation de Génétique Clinique, Hôpital Jeanne de Flandre, Lille, France. smanouvrier@chru-lille.fr
authors.forename: S
authors.initials: S
authors.lastname: Manouvrier
authors.forename: A
authors.initials: A
authors.lastname: Moerman
authors.forename: A
authors.initials: A
authors.lastname: Coeslier
authors.forename: L
authors.initials: L
authors.lastname: Devisme
authors.forename: O
authors.initials: O
authors.lastname: Boute
authors.forename: M
authors.initials: M
authors.lastname: Le Merrer
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000022:Abortion, Spontaneous / Q000235:genetics; D000328:Adult; D005260:Female; D005333:Fetus / Q000002:abnormalities; D006801:Humans; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011859:Radiography; D011884:Radius / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013576:Syndactyly; D013577:Syndrome; D013580:Synostosis / Q000235:genetics*; D014457:Ulna / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014960:X Chromosome / Q000235:genetics*