{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,20]],"date-time":"2026-06-20T04:20:08Z","timestamp":1781929208868,"version":"3.54.5"},"reference-count":21,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2024,6,23]],"date-time":"2024-06-23T00:00:00Z","timestamp":1719100800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This article presents two fetal cases of gnathodiaphyseal dysplasia (GDD), a rare autosomal dominant disorder, and reviews the relevant literature. The cases involved two fetuses exhibiting bone bowing, which led to the diagnosis of GDD. Genetic testing revealed two de novo variants of the <jats:italic>ANO5<\/jats:italic> gene, confirming the diagnosis. A literature review was conducted to explore GDD's clinical and paraclinical presentation, diagnosis, and management. GDD is a rare but frequently inherited cause of bone fragility and jaw lesions characterized by a gain\u2010of\u2010function variant within the <jats:italic>ANO5<\/jats:italic> gene. Clinical manifestations range from recurrent dental infections with mild jaw lesions to severe bone fragility with several fractures associated with large jaw lesions requiring disfiguring surgeries. Diagnostic techniques depend on the context and include targeted genetic testing of <jats:italic>ANO5<\/jats:italic>, untargeted molecular analysis with whole\u2010exome sequencing, or whole\u2010genome sequencing. This case report highlights the importance of recognizing GDD as a novel cause of bone bowing and fractures during pregnancy. By summarizing the literature, this article contributes to healthcare professionals' knowledge and improves the recognition, diagnosis, and care of patients with GDD.<\/jats:p>","DOI":"10.1002\/pd.6631","type":"journal-article","created":{"date-parts":[[2024,6,24]],"date-time":"2024-06-24T01:58:15Z","timestamp":1719194295000},"page":"1098-1104","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal cases and literature review"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-5766-9817","authenticated-orcid":false,"given":"Vivien","family":"Cuvelier","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Lille University Hospital  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Detlef","family":"Trost","sequence":"additional","affiliation":[{"name":"CERBA Laboratory  Saint\u2010Ouen\u2010l\u2019Aum\u00f4ne France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morgane","family":"Stichelbout","sequence":"additional","affiliation":[{"name":"Department of Pathology Lille University Hospital  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Michot","sequence":"additional","affiliation":[{"name":"Paris Cit\u00e9 University Reference Center for Skeletal Dysplasia Imagine Institute Necker Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Cormier\u2010Daire","sequence":"additional","affiliation":[{"name":"Paris Cit\u00e9 University Reference Center for Skeletal Dysplasia Imagine Institute Necker Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Boutry","sequence":"additional","affiliation":[{"name":"Department of Pediatric Imaging Lille University Hospital  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elise","family":"Machet","sequence":"additional","affiliation":[{"name":"Department of Gynecology &amp; Obstetrics Arras Hospital  Arras France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Vincent\u2010Delorme","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Lille University Hospital  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,6,23]]},"reference":[{"issue":"5","key":"e_1_2_8_2_1","first-page":"381","article-title":"Familial cases of a new systemic bone disease, hereditary gnatho\u2010diaphyseal sclerosis","volume":"43","author":"Akasaka Y","year":"1969","journal-title":"Nihon Seikeigeka Gakkai Zasshi"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.2001.16.9.1710"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.2003.18.3.413"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/421527"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2007.03.108"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.24431"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018\u2010017\u20102704\u20109"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/nxg.0000000000000612"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471\u20100528.2002.01022.x"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/jp.2013.178"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2004"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.224"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep40935"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12891\u2010019\u20102464\u20109"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/hed.25516"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41525\u2010022\u201000312\u20101"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0009\u20109163.2004.00307.x"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes13101736"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.oooo.2016.01.014"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2017.11.012"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11739\u2010018\u20101874\u20102"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6631","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,10]],"date-time":"2024-08-10T03:40:07Z","timestamp":1723261207000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6631"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,23]]},"references-count":21,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2024,8]]}},"alternative-id":["10.1002\/pd.6631"],"URL":"https:\/\/doi.org\/10.1002\/pd.6631","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,23]]},"assertion":[{"value":"2024-02-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-14","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-23","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}