title: Fraser syndrome: epidemiological study in a European population.
abstract: Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network of birth defect registries. Between January 1990 and December 2008, we identified 26 cases of Fraser syndrome in the monitored population of 12,886,464 births (minimal estimated prevalence of 0.20 per 100,000 or 1:495,633 births). Most cases (18/26; 69%) were registered in the western part of Europe, where the mean prevalence is 1 in 230,695 births, compared to the prevalence 1 in 1,091,175 for the rest of Europe (P = 0.0003). Consanguinity was present in 7/26 (27%) families. Ten (38%) cases were liveborn, 14 (54%) pregnancies were terminated following prenatal detection of a serious anomaly, and 2 (8%) were stillborn. Eye anomalies were found in 20/24 (83%), syndactyly in 14/24 (58%), and laryngeal anomalies in 5/24 (21%) patients. Ambiguous genitalia were observed in 3/24 (13%) cases. Bilateral renal agenesis was present in 12/24 (50%) and unilateral in 4/24 (17%) cases. The frequency of anorectal anomalies was particularly high (42%). Most cases of Fraser syndrome (85%) are suspected prenatally, often due to the presence of the association of renal agenesis and cryptophthalmos. In the European population, a high proportion (82%) of pregnancies is terminated, thus reducing the live birth prevalence to a third of the total prevalence rate.
authors.affiliation: Children's Hospital Zagreb, Clinical Hospital Centre Sisters of Charity, Medical School University of Zagreb, Zagreb, Croatia. ingeborg.barisic@kbcsm.hr
authors.forename: Ingeborg
authors.initials: I
authors.lastname: Barisic
authors.forename: Ljubica
authors.initials: L
authors.lastname: Odak
authors.forename: Maria
authors.initials: M
authors.lastname: Loane
authors.forename: Ester
authors.initials: E
authors.lastname: Garne
authors.forename: Diana
authors.initials: D
authors.lastname: Wellesley
authors.forename: Elisa
authors.initials: E
authors.lastname: Calzolari
authors.forename: Helen
authors.initials: H
authors.lastname: Dolk
authors.forename: Marie-Claude
authors.initials: MC
authors.lastname: Addor
authors.forename: Larraitz
authors.initials: L
authors.lastname: Arriola
authors.forename: Jorieke
authors.initials: J
authors.lastname: Bergman
authors.forename: Sebastiano
authors.initials: S
authors.lastname: Bianca
authors.forename: Patricia A
authors.initials: PA
authors.lastname: Boyd
authors.forename: Elizabeth S
authors.initials: ES
authors.lastname: Draper
authors.forename: Miriam
authors.initials: M
authors.lastname: Gatt
authors.forename: Martin
authors.initials: M
authors.lastname: Haeusler
authors.forename: Babak
authors.initials: B
authors.lastname: Khoshnood
authors.forename: Anna
authors.initials: A
authors.lastname: Latos-Bielenska
authors.forename: Bob
authors.initials: B
authors.lastname: McDonnell
authors.forename: Anna
authors.initials: A
authors.lastname: Pierini
authors.forename: Judith
authors.initials: J
authors.lastname: Rankin
authors.forename: Anke
authors.initials: A
authors.lastname: Rissmann
authors.forename: Annette
authors.initials: A
authors.lastname: Queisser-Luft
authors.forename: Christine
authors.initials: C
authors.lastname: Verellen-Dumoulin
authors.forename: David
authors.initials: D
authors.lastname: Stone
authors.forename: Romano
authors.initials: R
authors.lastname: Tenconi
mesh_terms: D016021:Epidemiologic Studies; D005060:Europe / Q000453:epidemiology; D005260:Female; D058497:Fraser Syndrome / Q000453:epidemiology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D015995:Prevalence; D012042:Registries