کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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4152534 | 1273165 | 2015 | 6 صفحه PDF | دانلود رایگان |
Beckwith–Wiedemann syndrome (BWS) is the most common genetic overgrowth syndrome, and it is frequently clinically recognizable because of characteristic features. These features include macrosomia, hemihypertrophy, macroglossia, facial nevus flammeus, earlobe creases and pits, omphalocele, and organomegaly. The most common molecular cause is hypomethylation of the maternal imprinting control region 2 (ICR2) in 11p15. Other molecular causes include hypermethylation of the maternal ICR1 in 11p15, mutations in CDKN1C, mosaic uniparental disomy 11p15, and chromosomal abnormalities involving 11p15. Some of these abnormalities are testable, and DNA methylation tests of 11p15 confirm about 60% of cases with BWS. The main management issues in pediatrics are hypoglycemia at birth, macroglossia, and surveillance for embryonal tumors, especially Wilms and hepatoblastoma.
Journal: Current Problems in Pediatric and Adolescent Health Care - Volume 45, Issue 4, April 2015, Pages 112–117