Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family
Bartsocas-Papas syndrome (BPS) is an autosomal recessive syndrome with severe craniofacial, limb, and genital abnormalities. As of 2011, 24 published cases and families were registered in the Orphanet Report Series. Compared to other disorders characterized by pterygia, the condition is usually more...
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| Format: | Article |
| Language: | English |
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Wiley
2011-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2011/428714 |
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| author | E. M. Abdalla H. Morsy |
| author_facet | E. M. Abdalla H. Morsy |
| author_sort | E. M. Abdalla |
| collection | DOAJ |
| description | Bartsocas-Papas syndrome (BPS) is an autosomal recessive syndrome with severe craniofacial, limb, and genital abnormalities. As of 2011, 24 published cases and families were registered in the Orphanet Report Series. Compared to other disorders characterized by pterygia, the condition is usually more severe and often lethal: most affected patients die in utero or shortly after birth. We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and microphthalmia. This male patient actually did not present with pterygia, however, we find his clinical description noteworthy. |
| format | Article |
| id | doaj-art-f8fce6dc6dcc4377a245029c170a7fd2 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2011-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-f8fce6dc6dcc4377a245029c170a7fd22025-02-03T01:23:24ZengWileyCase Reports in Genetics2090-65442090-65522011-01-01201110.1155/2011/428714428714Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian FamilyE. M. Abdalla0H. Morsy1Department of Human Genetics, Medical Research Institute, Alexandria University, 165 El-Horreya Avenue, El-Hadra, Alexandria 21561, EgyptDepartment of Human Genetics, Medical Research Institute, Alexandria University, 165 El-Horreya Avenue, El-Hadra, Alexandria 21561, EgyptBartsocas-Papas syndrome (BPS) is an autosomal recessive syndrome with severe craniofacial, limb, and genital abnormalities. As of 2011, 24 published cases and families were registered in the Orphanet Report Series. Compared to other disorders characterized by pterygia, the condition is usually more severe and often lethal: most affected patients die in utero or shortly after birth. We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and microphthalmia. This male patient actually did not present with pterygia, however, we find his clinical description noteworthy.http://dx.doi.org/10.1155/2011/428714 |
| spellingShingle | E. M. Abdalla H. Morsy Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family Case Reports in Genetics |
| title | Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family |
| title_full | Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family |
| title_fullStr | Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family |
| title_full_unstemmed | Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family |
| title_short | Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family |
| title_sort | bartsocas papas syndrome unusual findings in the first reported egyptian family |
| url | http://dx.doi.org/10.1155/2011/428714 |
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