{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T19:36:41Z","timestamp":1774467401315,"version":"3.50.1"},"reference-count":20,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["SAGE Open Medical Case Reports"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:p> Roberts syndrome is a rare genetic disorder characterized by symmetrical reductive limb malformation and craniofacial abnormalities. It is caused by mutation in the \u201cEstablishment of cohesion 1 homolog 2\u201d genes, resulting in the loss of acetyltransferase activities and manifesting as premature centromere separation in metaphase chromosomes. The affected individual grows slowly during pregnancy and after birth with associated mild to severe intellectual impairment. We present a 35-year-old multiparous Nigerian lady who had emergency cesarean section at 35\u2009weeks of gestation following abruptio placentae with a live fetus. The baby had poor Apgar score at birth and died shortly afterward. Tetraphocomelia was detected on prenatal ultrasound done at about 24\u2009weeks of gestation with other features sonographically normal. However, clinical diagnosis of severe variant of Roberts syndrome with tetraphocomelia, growth restriction, and craniofacial abnormalities were noted at birth. This case exhibits a very rare variant of Roberts syndrome with tetraphocomelia, intrauterine growth restriction, and craniofacial abnormalities. It also highlights the crucial role of detailed clinical examination and the inherent challenges in making cytogenetic diagnosis in low-income countries. <\/jats:p>","DOI":"10.1177\/2050313x221094077","type":"journal-article","created":{"date-parts":[[2022,4,21]],"date-time":"2022-04-21T11:54:01Z","timestamp":1650542041000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["Roberts syndrome with tetraphocomelia: A case report and literature review"],"prefix":"10.1177","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1693-373X","authenticated-orcid":false,"given":"Boniface Chukwuneme","family":"Okpala","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Nnamdi Azikiwe University, Awka, Nigeria"},{"name":"Department of Obstetrics and Gynaecology, Nnamdi Azikiwe University Teaching Hospital, Nnewi, Nigeria"},{"name":"Life International Hospital, Awka, Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvia Tochukwu","family":"Echendu","sequence":"additional","affiliation":[{"name":"Life International Hospital, Awka, Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph Ifeanyichukwu","family":"Ikechebelu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Nnamdi Azikiwe University, Awka, Nigeria"},{"name":"Department of Obstetrics and Gynaecology, Nnamdi Azikiwe University Teaching Hospital, Nnewi, Nigeria"},{"name":"Life International Hospital, Awka, Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0390-2152","authenticated-orcid":false,"given":"George Uchenna","family":"Eleje","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Nnamdi Azikiwe University, Awka, Nigeria"},{"name":"Department of Obstetrics and Gynaecology, Nnamdi Azikiwe University Teaching Hospital, Nnewi, Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ngozi Nneka","family":"Joe-Ikechebelu","sequence":"additional","affiliation":[{"name":"Life International Hospital, Awka, Nigeria"},{"name":"Department of Community Medicine, Chukwuemeka Odumegwu Ojukwu University Teaching Hospital, Awka, Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Louis Anayo","family":"Nwajiaku","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Nnamdi Azikiwe University Teaching Hospital, Nnewi, Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cyril Emeka","family":"Nwachukwu","sequence":"additional","affiliation":[{"name":"Department of Anaesthesia, Nnamdi Azikiwe University, Awka, Nigeria"},{"name":"Department of Anaesthesia, Nnamdi Azikiwe University Teaching Hospital, Nnewi, Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emeka Philip","family":"Igbodike","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, St Georges Hospital Memorial Centre, Lagos, Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark Chinedu","family":"Nnoruka","sequence":"additional","affiliation":[{"name":"Life International Hospital, Awka, Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Augusta Nkiruka","family":"Okpala","sequence":"additional","affiliation":[{"name":"Department of Family Medicine, Nnamdi Azikiwe University Teaching Hospital, Nnewi, Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chukwuemeka Jude","family":"Ofojebe","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Nnamdi Azikiwe University, Awka, Nigeria"},{"name":"Department of Obstetrics and Gynaecology, Nnamdi Azikiwe University Teaching Hospital, Nnewi, Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osita Samuel","family":"Umeononihu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Nnamdi Azikiwe University, Awka, Nigeria"},{"name":"Department of Obstetrics and Gynaecology, Nnamdi Azikiwe University Teaching Hospital, Nnewi, Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2022,4,21]]},"reference":[{"key":"bibr1-2050313X221094077","doi-asserted-by":"publisher","DOI":"10.2399\/prn.20.0283009"},{"key":"bibr2-2050313X221094077","doi-asserted-by":"publisher","DOI":"10.1016\/j.rmu.2017.04.003"},{"key":"bibr3-2050313X221094077","doi-asserted-by":"publisher","DOI":"10.1007\/BF00344159"},{"key":"bibr4-2050313X221094077","doi-asserted-by":"publisher","DOI":"10.4103\/0970-0358.44939"},{"key":"bibr5-2050313X221094077","first-page":"11","volume":"17","author":"Temtany SA","year":"2006","journal-title":"Genet 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