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Bart's syndrome associated with a disorder of sexual differentiation: An atypical presentation in a Cameroonian newborn
Author(s) -
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
Publication year - 2022
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.5234
Subject(s) - sex organ , medicine , congenital disorder , presentation (obstetrics) , aplasia , gonad , genetic disorder , dermatology , physical examination , ambiguous genitalia , hypospadias , case presentation , pediatrics , surgery , pathology , anatomy , disease , genetics , biology
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.

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