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Associated anomalies in Pierre Robin sequence.
Stoll, Claude; Alembick, Y; Roth, M P.
Afiliação
  • Stoll C; Laboratoire de Génétique Médicale, Faculté de Médecine, Strasbourg, France.
  • Alembick Y; Laboratoire de Génétique Médicale, Faculté de Médecine, Strasbourg, France.
  • Roth MP; Laboratoire de Génétique Médicale, Faculté de Médecine, Strasbourg, France.
Am J Med Genet A ; 191(9): 2312-2323, 2023 09.
Article em En | MEDLINE | ID: mdl-37477275
Pierre Robin sequence (PRS) is frequently co-occurring with other non-PRS congenital anomalies. The types and the prevalence of anomalies co-occurring with PRS vary in the reported studies. The aims of this report was to study the types and the prevalence of the anomalies co-occurring with PRS in a well-studied population northeastern France. The types and the prevalence of anomalies co-occurring in cases with PRS were ascertained in all terminations of pregnancy, stillbirths and live births in 387,067 births occurring consecutively during the period 1979-2007 in the area covered by our registry of congenital anomalies which is population-based, 89 cases of PRS were registered during the study period with a prevalence of 2.29 per 10,000 births, 69.7% of the cases had associated non-PRS anomalies. Chromosomal abnormalities were present in 10 (11.2%) cases including three 22 q11.2 deletion. Non-chromosomal recognizable conditions were diagnosed in 27 cases (30.3%) including 10 Stickler syndrome, 8 Treacher Collins syndrome, 3 cases with short stature and 6 other syndromes. Multiple congenital anomalies (MCA) were present in 25 cases (28.1%). The most frequent MCA were in the ear, face and neck (35 out of 98 anomalies, 35.7%), cardiovascular (18 anomalies, 18.4%), musculoskeletal (11 anomalies, 11.2%), central nervous (7 anomalies, 7.1%), urinary (6 anomalies, 6.1%), and eye (6 anomalies, 6.1%) system. The high prevalence of associated anomalies justifies a thorough screening for other congenital anomalies in cases with PRS.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Pierre Robin / Anormalidades Múltiplas / Doenças do Tecido Conjuntivo Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Pregnancy País/Região como assunto: Europa Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Pierre Robin / Anormalidades Múltiplas / Doenças do Tecido Conjuntivo Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Pregnancy País/Região como assunto: Europa Idioma: En Ano de publicação: 2023 Tipo de documento: Article