Bartsocas-Papas Syndrome : Unusual Findings in the First Reported Egyptian Family
Joint Authors
Source
Issue
Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2011-11-02
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Abdalla, E. M.& Morsy, H.. 2011. Bartsocas-Papas Syndrome : Unusual Findings in the First Reported Egyptian Family. Case Reports in Genetics،Vol. 2011, no. 2011, pp.1-6.
https://search.emarefa.net/detail/BIM-471507
Modern Language Association (MLA)
Abdalla, E. M.& Morsy, H.. Bartsocas-Papas Syndrome : Unusual Findings in the First Reported Egyptian Family. Case Reports in Genetics No. 2011 (2011), pp.1-6.
https://search.emarefa.net/detail/BIM-471507
American Medical Association (AMA)
Abdalla, E. M.& Morsy, H.. Bartsocas-Papas Syndrome : Unusual Findings in the First Reported Egyptian Family. Case Reports in Genetics. 2011. Vol. 2011, no. 2011, pp.1-6.
https://search.emarefa.net/detail/BIM-471507
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-471507