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Fraser syndrome: epidemiological study in a European population

Fraser syndrome: epidemiological study in a European population
Fraser syndrome: epidemiological study in a European population
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.
1552-4825
1012-1018
Barisic, Ingeborg
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Odak, Ljubica
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Loane, Maria
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Garne, Ester
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Wellesley, Diana
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Calzolari, Elisa
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Dolk, Helen
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Addor, Marie-Claude
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Arriola, Larraitz
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Bergman, Jorieke
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Bianca, Sebastiano
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Boyd, Patricia A.
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Draper, Elizabeth S.
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Gatt, Miriam
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Haeusler, Martin
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Khoshnood, Babak
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Latos-Bielenska, Anna
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McDonnell, Bob
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Pierini, Anna
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Rankin, Judith
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Rissmann, Anke
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Queisser-Luft, Annette
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Verellen-Dumoulin, Christine
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Stone, David
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Tenconi, Romano
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Barisic, Ingeborg
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Odak, Ljubica
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Loane, Maria
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Garne, Ester
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Wellesley, Diana
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Calzolari, Elisa
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Dolk, Helen
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Addor, Marie-Claude
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Arriola, Larraitz
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Bergman, Jorieke
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Bianca, Sebastiano
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Boyd, Patricia A.
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Draper, Elizabeth S.
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Gatt, Miriam
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Haeusler, Martin
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Khoshnood, Babak
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Latos-Bielenska, Anna
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McDonnell, Bob
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Pierini, Anna
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Rankin, Judith
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Rissmann, Anke
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Queisser-Luft, Annette
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Verellen-Dumoulin, Christine
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Stone, David
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Tenconi, Romano
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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 and Tenconi, Romano (2013) Fraser syndrome: epidemiological study in a European population. American Journal of Medical Genetics: Part A, 161 (5), 1012-1018. (doi:10.1002/ajmg.a.35839). (PMID:23532946)

Record type: Article

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.

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e-pub ahead of print date: 26 March 2013
Published date: May 2013
Organisations: Human Development & Health

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Local EPrints ID: 350831
URI: https://eprints.soton.ac.uk/id/eprint/350831
ISSN: 1552-4825
PURE UUID: 8cc55580-27b2-4ddb-a5d9-86a312f9ec8b

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Date deposited: 08 Apr 2013 13:39
Last modified: 16 Jul 2019 21:38

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Contributors

Author: Ingeborg Barisic
Author: Ljubica Odak
Author: Maria Loane
Author: Ester Garne
Author: Diana Wellesley
Author: Elisa Calzolari
Author: Helen Dolk
Author: Marie-Claude Addor
Author: Larraitz Arriola
Author: Jorieke Bergman
Author: Sebastiano Bianca
Author: Patricia A. Boyd
Author: Elizabeth S. Draper
Author: Miriam Gatt
Author: Martin Haeusler
Author: Babak Khoshnood
Author: Anna Latos-Bielenska
Author: Bob McDonnell
Author: Anna Pierini
Author: Judith Rankin
Author: Anke Rissmann
Author: Annette Queisser-Luft
Author: Christine Verellen-Dumoulin
Author: David Stone
Author: Romano Tenconi

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