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Characteristic features include osteolysis, distinct facial appearance, skull deformity, joint laxity, osteoporosis, and short stature. Associated abnormalities are congenital heart disease, congenital defects of the kidney, and neurological problems. Here, we present the first reported case of an African child with a variant in <jats:italic>NOTCH2<\/jats:italic> gene and features of Hajdu\u2010Cheney syndrome in whom we detected a congenital heart defect that has not been previously reported in association with the syndrome. To appropriately characterize this disease and document correct proportion of cardiovascular malformation associations, echocardiography is recommended for all cases of Hajdu Cheney syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.63013","type":"journal-article","created":{"date-parts":[[2022,10,27]],"date-time":"2022-10-27T13:39:35Z","timestamp":1666877975000},"page":"271-274","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Hajdu\u2010Cheney syndrome with atypical cardiovascular abnormalities"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8257-1864","authenticated-orcid":false,"given":"Ekanem N.","family":"Ekure","sequence":"first","affiliation":[{"name":"Department of Paediatrics College of Medicine University of Lagos\/Lagos University Teaching Hospital Idi\u2010Araba  Lagos Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ogochukwu","family":"Sokunbi","sequence":"additional","affiliation":[{"name":"Department of Paediatrics College of Medicine University of Lagos\/Lagos University Teaching Hospital Idi\u2010Araba  Lagos Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4949-0875","authenticated-orcid":false,"given":"Paul","family":"Kruszka","sequence":"additional","affiliation":[{"name":"Medical Genetics Branch, National Human Genome Research Institute The National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maximilian","family":"Muenke","sequence":"additional","affiliation":[{"name":"Medical Genetics Branch, National Human Genome Research Institute The National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3105-3231","authenticated-orcid":false,"given":"Adebowale A.","family":"Adeyemo","sequence":"additional","affiliation":[{"name":"Center for Research on Genomics and Global Health, National Human Genome Research Institute The National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,10,27]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.amsu.2021.01.041"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcd.0000228418.74413.52"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijerph17176174"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGEN.120.003108"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.125"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.778"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1067\/mtc.2002.119064"},{"issue":"2","key":"e_1_2_7_9_1","first-page":"43","article-title":"Hajdu\u2010Cheney syndrome associated with severe cardiac valvular and conduction disease","volume":"4","author":"Kaler S. 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