کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
4156543 | 1273775 | 2012 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
A case of Currarino's syndrome presenting as neonatal bowel obstruction
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موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
پریناتولوژی (پزشکی مادر و جنین)، طب اطفال و بهداشت کودک
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چکیده انگلیسی
We describe a male infant presenting in the neonatal period with bowel obstruction who had features of anal stenosis, a presacral teratoma, and a sacral anomaly consistent with Currarino's syndrome. Initial management involved a defunctioning colostomy followed by a posterior sagittal excision of the teratoma and repair of the anorectal defect. The proband's eldest sister is also affected with features of Currarino's syndrome but was diagnosed later in life. The proband, his sister, and the mother have been identified to have the HLXB9 mutation mapped to chromosome 7q36.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Pediatric Surgery - Volume 47, Issue 8, August 2012, Pages 1600–1603
Journal: Journal of Pediatric Surgery - Volume 47, Issue 8, August 2012, Pages 1600–1603
نویسندگان
Prabhu Sekaran, Nicola Brindley,