کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
4158590 1273813 2008 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Hirschsprung's disease in Arab siblings with Bardet-Biedl syndrome
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی پریناتولوژی (پزشکی مادر و جنین)، طب اطفال و بهداشت کودک
پیش نمایش صفحه اول مقاله
Hirschsprung's disease in Arab siblings with Bardet-Biedl syndrome
چکیده انگلیسی

Hirschsprung's disease (HSCR) is a developmental disorder characterized by the absence of enteric neurons in distal segments of the gut. Though HSCR is isolated (nonsyndromic) in most cases, its association with chromosomal aberrations, some congenital anomalies, and a few syndromes has been documented. We report the association of HSCR with Bardet-Biedl syndrome in 2 siblings born to consanguineous Saudi Arabian parents. Both cases were diagnosed during the neonatal period. The first patient had the severe variety of the disease with aganglionosis involving the entire colon and terminal ileum. He died of postoperative complications. The second child had a limited short segment variety of HSCR. For social reasons, the surgical intervention was done only at 5 years of age with no documented complications.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Pediatric Surgery - Volume 43, Issue 6, June 2008, Pages 1213–1217
نویسندگان
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