Roberts syndrome with tetraphocomelia: A case report and literature review.

Autor:	Okpala BC; Department of Obstetrics and Gynaecology, Nnamdi Azikiwe University, Awka, Nigeria.; Department of Obstetrics and Gynaecology, Nnamdi Azikiwe University Teaching Hospital, Nnewi, Nigeria.; Life International Hospital, Awka, Nigeria., Echendu ST; Life International Hospital, Awka, Nigeria., Ikechebelu JI; Department of Obstetrics and Gynaecology, Nnamdi Azikiwe University, Awka, Nigeria.; Department of Obstetrics and Gynaecology, Nnamdi Azikiwe University Teaching Hospital, Nnewi, Nigeria.; Life International Hospital, Awka, Nigeria., Eleje GU; Department of Obstetrics and Gynaecology, Nnamdi Azikiwe University, Awka, Nigeria.; Department of Obstetrics and Gynaecology, Nnamdi Azikiwe University Teaching Hospital, Nnewi, Nigeria., Joe-Ikechebelu NN; Life International Hospital, Awka, Nigeria.; Department of Community Medicine, Chukwuemeka Odumegwu Ojukwu University Teaching Hospital, Awka, Nigeria., Nwajiaku LA; Department of Obstetrics and Gynaecology, Nnamdi Azikiwe University Teaching Hospital, Nnewi, Nigeria., Nwachukwu CE; Department of Anaesthesia, Nnamdi Azikiwe University, Awka, Nigeria.; Department of Anaesthesia, Nnamdi Azikiwe University Teaching Hospital, Nnewi, Nigeria., Igbodike EP; Department of Obstetrics and Gynecology, St Georges Hospital Memorial Centre, Lagos, Nigeria., Nnoruka MC; Life International Hospital, Awka, Nigeria., Okpala AN; Department of Family Medicine, Nnamdi Azikiwe University Teaching Hospital, Nnewi, Nigeria., Ofojebe CJ; Department of Obstetrics and Gynaecology, Nnamdi Azikiwe University, Awka, Nigeria.; Department of Obstetrics and Gynaecology, Nnamdi Azikiwe University Teaching Hospital, Nnewi, Nigeria., Umeononihu OS; Department of Obstetrics and Gynaecology, Nnamdi Azikiwe University, Awka, Nigeria.; Department of Obstetrics and Gynaecology, Nnamdi Azikiwe University Teaching Hospital, Nnewi, Nigeria.
Jazyk:	angličtina
Zdroj:	SAGE open medical case reports [SAGE Open Med Case Rep] 2022 Apr 21; Vol. 10, pp. 2050313X221094077. Date of Electronic Publication: 2022 Apr 21 (Print Publication: 2022).
DOI:	10.1177/2050313X221094077
Abstrakt:	Roberts syndrome is a rare genetic disorder characterized by symmetrical reductive limb malformation and craniofacial abnormalities. It is caused by mutation in the "Establishment of cohesion 1 homolog 2" 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 weeks 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 weeks 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. Competing Interests: Declaration of conflicting interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article. (© The Author(s) 2022.)
Databáze:	MEDLINE
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