{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T16:00:37Z","timestamp":1776096037590,"version":"3.50.1"},"reference-count":7,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2024,8,8]],"date-time":"2024-08-08T00:00:00Z","timestamp":1723075200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Myhre syndrome is a rare genetic disease caused by recurrent gain\u2010of\u2010function variants in <jats:italic>SMAD4<\/jats:italic> (Ile500Thr, Ile500Val, Arg496Cys, and Ile500Met) characterized by postnatal short stature with pseudo\u2010muscular build, joint stiffness, variable intellectual disability, hearing loss, and a distinctive pattern of dysmorphic facial features. The course can be severe in some cases, with life\u2010threatening cardiac and pulmonary complications caused by connective tissue involvement. These progressive features over time make early clinical diagnosis difficult but possible by astute clinicians who evaluate young children with autism or short stature and unusual appearance. Only two cases of Myhre syndrome diagnosed during the prenatal period have been reported. Here, we present a detailed description of two unrelated fetuses with Myhre syndrome, each molecularly confirmed by genome or exome sequencing, who underwent fetal examination after termination of pregnancy. One had severe intrauterine growth retardation associated with crossed fused renal ectopia, and the other one had pulmonary atresia with ventricular septal defect (a form of tetralogy of Fallot). Both had mild dysmorphic features with a wide nasofrontal angle. Our results and a systematic prenatal literature review add insight into the early natural history of Myhre syndrome and highlight the contribution of prenatal next\u2010generation sequencing in prenatal diagnosis and the importance of fetal autopsy in Myhre syndrome.<\/jats:p>","DOI":"10.1002\/pd.6642","type":"journal-article","created":{"date-parts":[[2024,8,9]],"date-time":"2024-08-09T02:38:35Z","timestamp":1723171115000},"page":"1268-1272","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-8080-1345","authenticated-orcid":false,"given":"Jeanne","family":"Jury","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU Nantes  Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Madeleine","family":"Joubert","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de F\u0153topathologie et G\u00e9n\u00e9tique CHU de Nantes  Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudine","family":"Le Vaillant","sequence":"additional","affiliation":[{"name":"Service de Gyn\u00e9cologie\u2010Obst\u00e9trique Diagnostic Ant\u00e9natal CHU de Nantes  Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Le\u00efla","family":"Ghesh","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de F\u0153topathologie et G\u00e9n\u00e9tique CHU de Nantes  Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre\u2010Emmanuel","family":"S\u00e9gu\u00e9la","sequence":"additional","affiliation":[{"name":"Pediatric and Fetal Cardiology Unit H\u00f4pital Priv\u00e9 du Confluent  Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ange\u2010Line","family":"Bruel","sequence":"additional","affiliation":[{"name":"INSERM U1231 GAD University Bourgogne Franche\u2010Comt\u00e9  Dijon France"},{"name":"Unit\u00e9 Fonctionnelle Innovation en Diagnostic G\u00e9nomique des Maladies Rares F\u00e9d\u00e9ration Hospitalo\u2010Universitaire (FHU)\u2010TRANSLAD CHU Dijon Bourgogne  Dijon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benjamin","family":"Cogn\u00e9","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU Nantes  Nantes France"},{"name":"Nantes Universit\u00e9, CNRS, INSERM, l\u2019institut du thorax  Nantes France"},{"name":"Laboratoire de Biologie M\u00e9dicale Multisites Seqoia PFMG2025  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mathilde","family":"Nizon","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU Nantes  Nantes France"},{"name":"Nantes Universit\u00e9, CNRS, INSERM, l\u2019institut du thorax  Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,8,8]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1016"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.011"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010022\u201002447\u2010x"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63638"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.21382"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6414"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1177\/10935266221079569"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6642","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,17]],"date-time":"2024-11-17T12:08:29Z","timestamp":1731845309000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6642"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,8]]},"references-count":7,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2024,9]]}},"alternative-id":["10.1002\/pd.6642"],"URL":"https:\/\/doi.org\/10.1002\/pd.6642","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,8,8]]},"assertion":[{"value":"2024-04-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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