{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T21:56:29Z","timestamp":1790632589206,"version":"4.1.0"},"reference-count":43,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2023,7,21]],"date-time":"2023-07-21T00:00:00Z","timestamp":1689897600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pierre Robin sequence (PRS) is frequently co\u2010occurring with other non\u2010PRS congenital anomalies. The types and the prevalence of anomalies co\u2010occurring with PRS vary in the reported studies. The aims of this report was to study the types and the prevalence of the anomalies co\u2010occurring with PRS in a well\u2010studied population northeastern France. The types and the prevalence of anomalies co\u2010occurring 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\u20132007 in the area covered by our registry of congenital anomalies which is population\u2010based, 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\u2010PRS anomalies. Chromosomal abnormalities were present in 10 (11.2%) cases including three 22 q11.2 deletion. Non\u2010chromosomal 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.<\/jats:p>","DOI":"10.1002\/ajmg.a.63344","type":"journal-article","created":{"date-parts":[[2023,7,21]],"date-time":"2023-07-21T11:35:21Z","timestamp":1689939321000},"page":"2312-2323","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Associated anomalies in <scp>Pierre Robin<\/scp> sequence"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4280-9257","authenticated-orcid":false,"given":"Claude","family":"Stoll","sequence":"first","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale, Facult\u00e9 de M\u00e9decine  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Alembick","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale, Facult\u00e9 de M\u00e9decine  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. 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