کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2178197 | 1549633 | 2013 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Cornelia-de Lange syndrome in an Egyptian infant with unusual bone deformities
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
بیولوژی سلول
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چکیده انگلیسی
We report a 4 month old female infant with the typical features of Cornelia-de Lange syndrome. What was striking in our patient was the presence of skeletal anomalies not reported previously. These included arachnodactly of both fingers and toes, flexion of thumbs at metacarpophalengeal joints, bilateral short big toes, angulation of the lower part of the bones of right forearm and both legs with multiple skin folds. Also biochemical and X-ray evidence of rickets was detected mostly due to malnutrition and failure to thrive. The patient died at the age of 5 months with bronchopneumonia and gastroenteritis.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Egyptian Journal of Medical Human Genetics - Volume 14, Issue 1, January 2013, Pages 109–112
Journal: Egyptian Journal of Medical Human Genetics - Volume 14, Issue 1, January 2013, Pages 109–112
نویسندگان
Rabah M. Shawky, Heba Salah Abd-Elkhalek, Shimaa Gad, Shaimaa Abdelsattar Mohammad, Neven S. Seifeldin,