Roberts syndrome with tetraphocomelia: A case report and literature review

Roberts syndrome with tetraphocomelia: A case report and literature review

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 centr...

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Main Authors: Boniface Chukwuneme Okpala, Sylvia Tochukwu Echendu, Joseph Ifeanyichukwu Ikechebelu, George Uchenna Eleje, Ngozi Nneka Joe-Ikechebelu, Louis Anayo Nwajiaku, Cyril Emeka Nwachukwu, Emeka Philip Igbodike, Mark Chinedu Nnoruka, Augusta Nkiruka Okpala, Chukwuemeka Jude Ofojebe, Osita Samuel Umeononihu
Format: Article
Language:English
Published: SAGE Publishing 2022-04-01
Series:SAGE Open Medical Case Reports
Online Access:https://doi.org/10.1177/2050313X221094077

Internet

https://doi.org/10.1177/2050313X221094077

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