Bartsocas-Papas Syndrome: Case Report

Bartsocas-Papas syndrome (BPS) is a rare form of autosomal recessive disease, which is often severe and most of the time lethal. Only a few cases have been reported in the literature, so far mainly from the Mediterranean ancestry. We are describing here a case of severe form of BPS, which we encountered in our hospital in Dubai, UAE, which was diagnosed by antenatal scan; the baby had typical features of BPS and died immediately within few hours of life. Parents were first-degree consanguineous couples, and there was a family history of this disorder.

Location
Deutsche Nationalbibliothek Frankfurt am Main
Extent
Online-Ressource
Language
Englisch

Bibliographic citation
Bartsocas-Papas Syndrome: Case Report ; volume:5 ; number:2 ; year:2022 ; pages:125-128 ; extent:4
Dubai medical journal ; 5, Heft 2 (2022), 125-128 (gesamt 4)

Creator
Nikhat, Fareeda
Fernandes, Shalini Dolly
Mashharawi, Nabilah
Bahutair, Shadha

DOI
10.1159/000520991
URN
urn:nbn:de:101:1-2022061600164827500289
Rights
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
Last update
15.08.2025, 7:34 AM CEST

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Associated

  • Nikhat, Fareeda
  • Fernandes, Shalini Dolly
  • Mashharawi, Nabilah
  • Bahutair, Shadha

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