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Fraser Syndrome: Epidemiological Study in a European Population
American journal of medical genetics. Part A, 2013-05, Vol.161A (5), p.1012-1018
Barisic, Ingeborg
Odak, Ljubica
Loane, Maria
Garne, Ester
Wellesley, Diana
Calzolari, Elisa
Dolk, Helen
Addor, Marie-Claude
Arriola, Larraitz
Bergman, Jorieke
Bianca, Sebastiano
Boyd, Patricia A.
Draper, Elizabeth S
Gatt, Miriam
Haeusler, Martin
Khoshnood, Babak
Latos-Bielenska, Anna
McDonnell, Bob
Pierini, Anna
Rankin, Judith
Rissmann, Anke
Queisser-Luft, Annette
Verellen-Dumoulin, Christine
Stone, David
Tenconi, Romano
2013
Details
Autor(en) / Beteiligte
Barisic, Ingeborg
Odak, Ljubica
Loane, Maria
Garne, Ester
Wellesley, Diana
Calzolari, Elisa
Dolk, Helen
Addor, Marie-Claude
Arriola, Larraitz
Bergman, Jorieke
Bianca, Sebastiano
Boyd, Patricia A.
Draper, Elizabeth S
Gatt, Miriam
Haeusler, Martin
Khoshnood, Babak
Latos-Bielenska, Anna
McDonnell, Bob
Pierini, Anna
Rankin, Judith
Rissmann, Anke
Queisser-Luft, Annette
Verellen-Dumoulin, Christine
Stone, David
Tenconi, Romano
Titel
Fraser Syndrome: Epidemiological Study in a European Population
Ist Teil von
American journal of medical genetics. Part A, 2013-05, Vol.161A (5), p.1012-1018
Ort / Verlag
United States: Blackwell Publishing Ltd
Erscheinungsjahr
2013
Link zum Volltext
Quelle
Wiley Online Library Journals
Beschreibungen/Notizen
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. © 2013 Wiley Periodicals, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825
eISSN: 1552-4833
DOI: 10.1002/ajmg.a.35839
Titel-ID: cdi_proquest_miscellaneous_1492625290
Format
–
Schlagworte
Anorectal
,
congenital abnormalities
,
Epidemiologic Studies
,
epidemiology
,
Europe - epidemiology
,
Female
,
Fraser syndrome
,
Fraser Syndrome - epidemiology
,
Humans
,
induced abortion
,
Infant, Newborn
,
Male
,
Pregnancy
,
prenatal diagnosis
,
Prevalence
,
Registries
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