{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T02:55:20Z","timestamp":1781578520151,"version":"3.54.5"},"reference-count":36,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,9,24]],"date-time":"2024-09-24T00:00:00Z","timestamp":1727136000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/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":[[2025,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Radial ray deficiency (RRD) may be isolated, without other congenital anomalies or co\u2010occurring with other, non\u2010RRD, congenital anomalies. The prevalence and the types of co\u2010occurring anomalies are variable in the reported studies. The aim of this study was to obtain the prevalence and the types of co\u2010occurring congenital anomalies among cases with RRD in a geographically well\u2010characterized population of 387,067 consecutive births in northeastern France from 1979 to 2007 including live births, stillbirths and terminations of pregnancy. During the study period 83 cases with RRD were ascertained (prevalence of 2.14 per 10,000 births), 63 cases (75.9%) had co\u2010occurring anomalies. Cases with co\u2010occurring anomalies were divided into chromosomal anomalies (18 cases, 22%), syndromic conditions (syndromes and associations, 23 cases, 28%), and multiple congenital anomalies (MCA) (22 cases, 26%). Trisomies 18 and autosomal deletions were the most common chromosomal abnormalities. Thrombocytopenia absent radii syndrome, VACTERL association, Fanconi anemia, Roberts syndrome, and Holt\u2010Oram syndrome were the most common syndromic conditions. Anomalies in the musculoskeletal, the cardiovascular, the urinary, and the orofacial system were the most common co\u2010occurring anomalies in cases with MCA. As cases with RRD have often co\u2010occurring congenital anomalies, a multidisciplinary checkup of these cases is recommended.<\/jats:p>","DOI":"10.1002\/ajmg.a.63874","type":"journal-article","created":{"date-parts":[[2024,9,24]],"date-time":"2024-09-24T12:55:20Z","timestamp":1727182520000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Associated Anomalies in Radial Ray Deficiency"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4280-9257","authenticated-orcid":false,"given":"Claude","family":"Stoll","sequence":"first","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yves","family":"Alembik","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Paule","family":"Roth","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,9,24]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1083"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/ije\/11.3.239"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cegh.2020.07.007"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0363-5023(87)80267-8"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38513"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37240"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00285024"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb02952.x"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhsa.2010.07.007"},{"key":"e_1_2_10_11_1","unstructured":"EUROCAT.2004.\u201cEUROCAT Guide 3 (2nd Ed) for the Description and Classification of Congenital Limb Defects. EUROCAT Central Registry University of Ulster. EUROCAT Guide 1.5 Chapter 3.3 EUROCAT Subgroups and Chapter 3.4 MCA Algorithm Guidelines for Data Registration.\u201dEU RD Platform (europa.eu). EUROCAT.http:\/\/www.eurocat\u2010network.eu\/."},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320490111"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440611"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420390205"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1053\/jhsu.2001.26121"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33999"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhsa.2006.05.012"},{"key":"e_1_2_10_18_1","volume-title":"International Clearinghouse for Birth Defects Surveillance and Research: Annual Report 2008","author":"ICBDSR","year":"2008"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1086\/510919"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0219930"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhsa.2011.03.015"},{"key":"e_1_2_10_22_1","unstructured":"Loeuillet L. B.Leroy C.Thuillier et al.2012.\u201cImportance De L'examen Foetopathologique Dans Le Diagnostic \u00c9tiologique D'une Anomalie Du Rayon Radial a Propos De 19 Cas. Marseille 6\u00e8mes Assises De G\u00e9n\u00e9tique Humaine et M\u00e9dicale 2 3 & 4 F\u00e9vrier 2012.\u201dPoster 607."},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12891\u2010018\u20102195\u20103"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.006"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35707"},{"key":"e_1_2_10_26_1","first-page":"153","article-title":"Radial Dysplasia","volume":"57","author":"Pardini A. G.","year":"1968","journal-title":"Clinical Orthopaedics and Related Research"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.10012"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0890-6238(97)00028-2"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000717)93:2<110::AID-AJMG6>3.0.CO;2-9"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20062"},{"key":"e_1_2_10_31_1","first-page":"157","article-title":"The Northeastern France Birth Defects Monitoring System","volume":"163","author":"Stoll C.","year":"1985","journal-title":"Progress in Clinical Research"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-3016.1992.tb00773.x"},{"issue":"6","key":"e_1_2_10_33_1","doi-asserted-by":"crossref","first-page":"1700","DOI":"10.1002\/ajmg.a.62689","article-title":"Co\u2010Occuring Anomalies in Cases With Oral Clefts","volume":"188","author":"Stoll C.","year":"2022","journal-title":"American Journal of Medical Genetics, Part A"},{"issue":"2","key":"e_1_2_10_34_1","first-page":"223","article-title":"Associated Malformations Among Infants With Radial Ray Deficiency","volume":"24","author":"Stoll C.","year":"2013","journal-title":"Genetic Counseling"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62033"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2474-14-323"},{"key":"e_1_2_10_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.120"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63874","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,3]],"date-time":"2025-01-03T05:46:03Z","timestamp":1735883163000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63874"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,24]]},"references-count":36,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,2]]}},"alternative-id":["10.1002\/ajmg.a.63874"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63874","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,9,24]]},"assertion":[{"value":"2024-02-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-23","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-24","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63874"}}