Clinical Case Reports (Jan 2022)

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

  • Odette Berline Sigha,
  • Ritha Mbono Betoko,
  • Grace Anita Nkoro,
  • Mireille Fossi Happi,
  • Charlotte Eposse Ekoube,
  • Benjamin Bertrand Kelbaba,
  • Edgar Mandeng Ma Linwa,
  • Emmanuel Armand Kouotou

DOI
https://doi.org/10.1002/ccr3.5234
Journal volume & issue
Vol. 10, no. 1
pp. n/a – n/a

Abstract

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Abstract 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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