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Bart's syndrome associated with a disorder of sexual differentiation: An atypical presentation in a Cameroonian newborn

Bart's syndrome consists of congenital aplasia of the skin affecting only the lower limbs, associated with bullae over the skin and/or mucous membranes, as well as a nail anomaly. It is an extremely rare genetic disorder, which can be associated with other birth defects. We report the case of a...

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Detalles Bibliográficos
Autores principales: Sigha, Odette Berline, Mbono Betoko, Ritha, Nkoro, Grace Anita, Fossi Happi, Mireille, Ekoube, Charlotte Eposse, Kelbaba, Benjamin Bertrand, Mandeng Ma Linwa, Edgar, Kouotou, Emmanuel Armand
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8741868/
https://www.ncbi.nlm.nih.gov/pubmed/35028143
http://dx.doi.org/10.1002/ccr3.5234
Descripción
Sumario:Bart's syndrome consists of congenital aplasia of the skin affecting only the lower limbs, associated with bullae over the skin and/or mucous membranes, as well as a nail anomaly. It is an extremely rare genetic disorder, which can be associated with other birth defects. We report the case of a newborn baby admitted at day 0 of life in the neonatal department, for multifocal skin detachment predominantly at the lower limbs. In addition, examination of the external genitalia revealed a clitoridomegaly genital bud measuring 14 mm, scrotalized and unfused genital bulges with the presence of 2 orifices. No gonad was palpated. The clinical diagnosis of Bart's syndrome associated with a disorder of sexual differentiation was retained. We hereby report the first case of Bart's syndrome described in Cameroon in association with a disorder of sexual differentiation.