{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T23:04:58Z","timestamp":1790550298079,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,10,25]],"date-time":"2019-10-25T00:00:00Z","timestamp":1571961600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Rationale<\/jats:title><jats:p>Adams\u2013Oliver syndrome (AOS) is a genetic disorder characterized by the association of aplasia cutis congenita (ACC), terminal transverse limb defect (TTLD), congenital cardiac malformation (CCM), and minor features, such as cutaneous, neurological, and hepatic abnormalities (HAs). The aim of the study is to emphasize phenotype\u2013genotype correlations in AOS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We studied 29 AOS patients. We recorded retrospectively detailed phenotype data, including clinical examination, biological analyses, and imaging. The molecular analysis was performed through whole exome sequencing (WES).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twenty\u2010nine patients (100%) presented with ACC, the principal inclusion criteria in the study. Seventeen of twenty\u2010one (81%) had cutis marmorata telangiectasia congenita, 16\/26 (62%) had TTLD, 14\/23 (61%) had CCM, 7\/20 (35%) had HAs, and 9\/27 (33%) had neurological findings. WES was performed in 25 patients. Fourteen of twenty\u2010five (56%) had alterations in the genes already described in AOS. CCM and HAs are particularly associated with the <jats:italic>NOTCH1<\/jats:italic> genotype. TTLD is present in patients with <jats:italic>DOCK6<\/jats:italic> and <jats:italic>EOGT<\/jats:italic> alterations. Neurological findings of variable degree were associated sometimes with <jats:italic>DOCK6<\/jats:italic> and <jats:italic>NOTCH1<\/jats:italic> rarely with <jats:italic>EOGT<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>AOS is characterized by a clinical and molecular variability. It appears that degrees of genotype\u2013phenotype correlations exist for patients with identified pathogenic mutations, underlining the need to undertake a systematic but adjusted multidisciplinary assessment.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.61364","type":"journal-article","created":{"date-parts":[[2019,10,26]],"date-time":"2019-10-26T05:38:12Z","timestamp":1572068292000},"page":"29-37","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Expanding the phenotype in Adams\u2013Oliver syndrome correlating with the genotype"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0827-616X","authenticated-orcid":false,"given":"Benjamin","family":"Dudoignon","sequence":"first","affiliation":[{"name":"AP\u2010HP, Service de G\u00e9n\u00e9tique Clinique Necker\u2010Enfants malades University Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celine","family":"Huber","sequence":"additional","affiliation":[{"name":"INSERM, UMR1163 Iimagine Institute  Paris France"},{"name":"AP\u2010HP Reference Center for Skeletal Dysplasia  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Michot","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Service de G\u00e9n\u00e9tique Clinique Necker\u2010Enfants malades University Hospital  Paris France"},{"name":"INSERM, UMR1163 Iimagine Institute  Paris France"},{"name":"AP\u2010HP Reference Center for Skeletal Dysplasia  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Di Rocco","sequence":"additional","affiliation":[{"name":"Hopital Femme Mere Enfant  Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muriel","family":"Girard","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Liver Unit, National Reference Center for Biliary Atresia and Genetic Cholestasis, INSERM U1151\/CNRS UMR 8253 Institut Necker\u2010Enfants malades (INEM), Assistance Publique Hopitaux de Paris, Necker\u2010Enfants malades Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanislas","family":"Lyonnet","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Service de G\u00e9n\u00e9tique Clinique Necker\u2010Enfants malades University Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marl\u00e8ne","family":"Rio","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Service de G\u00e9n\u00e9tique Clinique Necker\u2010Enfants malades University Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6801-7106","authenticated-orcid":false,"given":"Smail Hadj","family":"Rabia","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Department of Dermatology, Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), INSERM U1163 Descartes\u2013Sorbonne Paris Cit\u00e9 University, Imagine Institute, Necker\u2010Enfants malades University Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie Cormier","family":"Daire","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Service de G\u00e9n\u00e9tique Clinique Necker\u2010Enfants malades University Hospital  Paris France"},{"name":"INSERM, UMR1163 Iimagine Institute  Paris France"},{"name":"AP\u2010HP Reference Center for Skeletal Dysplasia  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genevi\u00e8ve","family":"Baujat","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Service de G\u00e9n\u00e9tique Clinique Necker\u2010Enfants malades University Hospital  Paris France"},{"name":"INSERM, UMR1163 Iimagine Institute  Paris France"},{"name":"AP\u2010HP Reference Center for Skeletal Dysplasia  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,10,25]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jhered.a105415"},{"issue":"6","key":"e_1_2_7_3_1","first-page":"1386","article-title":"Expanding the phenotype of cardiovascular malformations in Adams\u2010Oliver syndrome","volume":"161","author":"Algaze C.","year":"2013","journal-title":"American Journal of Human Genetics"},{"issue":"4","key":"e_1_2_7_4_1","first-page":"328","article-title":"Polymicrogyria associated with scalp and limb defects: Variant of Adams\u2010Oliver syndrome","volume":"93","author":"Amor D. J.","year":"2000","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.159"},{"issue":"5","key":"e_1_2_7_6_1","first-page":"1175","article-title":"Cardiovascular malformations in Adams\u2010Oliver syndrome","volume":"167","author":"Digilio M. C.","year":"2015","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature03940"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37889"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36685"},{"issue":"45","key":"e_1_2_7_10_1","first-page":"57","article-title":"The Adams\u2010Oliver syndrome in Spain: The epidemiological aspects","author":"Mart\u0131nez\u2010Fr\u0131'as","year":"1996","journal-title":"Anales Espa\u00f1oles de Pediatr\u00eda"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.07.015"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23567"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0038-1639372"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.02.012"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.07.009"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32708"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.04.013"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.115.001086"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.07.011"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22795"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-018-3810-1"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.61364","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61364","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61364","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61364","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T17:23:54Z","timestamp":1693329834000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61364"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10,25]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,1]]}},"alternative-id":["10.1002\/ajmg.a.61364"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61364","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,10,25]]},"assertion":[{"value":"2019-03-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-09-05","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-10-25","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}