Bartsocas-Papas Syndrome: Case Report

被引：1

作者：

Nikhat, Fareeda ^{[1
]}

Fernandes, Shalini Dolly ^{[1
]}

Mashharawi, Nabilah ^{[1
]}

Bahutair, Shadha ^{[1
]}

机构：

[1] Dubai Hlth Author, Latifa Women & Children Hosp, Dept Obstet & Gynecol, Dubai, U Arab Emirates

来源：

DUBAI MEDICAL JOURNAL | 2022年 / 5卷 / 02期

关键词：

Popliteal pterygium syndrome; Bartsocas-Papas syndrome; Autosomal recessive disease; Congenital syndrome; AUTOSOMAL-RECESSIVE FORM;

D O I：

10.1159/000520991

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：125 / 128

页数：4

共 7 条

[1]

Abdalla E M, 2011, Case Rep Genet, V2011, P428714, DOI 10.1155/2011/428714

[2] United Arab Emirates: Communities and community genetics [J].