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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| Format: | Article |
| Language: | English |
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Knowledge E
2022-01-01
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| Series: | Dubai Medical Journal |
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| Online Access: | https://www.karger.com/Article/FullText/520991 |
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| author | Fareeda Nikhat Shalini Dolly Fernandes Nabilah Mashharawi Shadha Bahutair |
| author_facet | Fareeda Nikhat Shalini Dolly Fernandes Nabilah Mashharawi Shadha Bahutair |
| author_sort | Fareeda Nikhat |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-12dedfc7ec4c4d76b7cc24611f401547 |
| institution | DOAJ |
| issn | 2571-726X |
| language | English |
| publishDate | 2022-01-01 |
| publisher | Knowledge E |
| record_format | Article |
| series | Dubai Medical Journal |
| spelling | doaj-art-12dedfc7ec4c4d76b7cc24611f4015472025-08-20T02:57:48ZengKnowledge EDubai Medical Journal2571-726X2022-01-011410.1159/000520991520991Bartsocas-Papas Syndrome: Case ReportFareeda NikhatShalini Dolly FernandesNabilah MashharawiShadha Bahutairhttps://orcid.org/0000-0002-2717-4436Bartsocas-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.https://www.karger.com/Article/FullText/520991popliteal pterygium syndromebartsocas-papas syndromeautosomal recessive diseasecongenital syndrome |
| spellingShingle | Fareeda Nikhat Shalini Dolly Fernandes Nabilah Mashharawi Shadha Bahutair Bartsocas-Papas Syndrome: Case Report Dubai Medical Journal popliteal pterygium syndrome bartsocas-papas syndrome autosomal recessive disease congenital syndrome |
| title | Bartsocas-Papas Syndrome: Case Report |
| title_full | Bartsocas-Papas Syndrome: Case Report |
| title_fullStr | Bartsocas-Papas Syndrome: Case Report |
| title_full_unstemmed | Bartsocas-Papas Syndrome: Case Report |
| title_short | Bartsocas-Papas Syndrome: Case Report |
| title_sort | bartsocas papas syndrome case report |
| topic | popliteal pterygium syndrome bartsocas-papas syndrome autosomal recessive disease congenital syndrome |
| url | https://www.karger.com/Article/FullText/520991 |
| work_keys_str_mv | AT fareedanikhat bartsocaspapassyndromecasereport AT shalinidollyfernandes bartsocaspapassyndromecasereport AT nabilahmashharawi bartsocaspapassyndromecasereport AT shadhabahutair bartsocaspapassyndromecasereport |