Koffi M Guedenon, Yassamine Doubaj, Djatougbe A E Akolly, Weli Barry Moussa, Bayaki Saka, Komlavi Adjenou, Mofou Belo, Machihude Pio, Komlan A Mihluedo-Agbolan, Kokou Vonor, Kokou M Amedome, Mazamaesso Tchaou, Yawo D Atakouma, Adama D Gbadoe, Comlan F Dossou, Mawouto Fiawoo, Komla Gnassingbe, Palokinam Pitche, Diparidè A Agbèrè, Didier K Gnamey
The aim of this article is to describe the first case of Hutchinson-Gilford Progeria Syndrome (HGPS) in Togo and review all Africans cases. Our patient was a 12.8-year-old Togolese boy followed in our unit till he was 15-year-old for HGPS. He was the only child of non-consanguineous parents. The phenotypic findings were craniofacial dysmorphy, dwarfism, lipodystrophy, diffusely scattered hyperpigmented foci, pyriform thorax, nail dystrophy, decreased joint mobility, and camptodactyly. He had characteristic facies with prominent forehead, prominent eyes, absent ear lobule, thin nasal skin, convex nasal profile, micrognathia, and crowded teeth...
June 2020: American Journal of Medical Genetics. Part A