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 encount...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Knowledge E
2022-01-01
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| Series: | Dubai Medical Journal |
| Subjects: | |
| Online Access: | https://www.karger.com/Article/FullText/520991 |
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| Summary: | 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. |
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| ISSN: | 2571-726X |