頁籤選單縮合
題 名 | Syndromes and Disorders Associated With Omphalocele (Ⅰ): Beckwith-wiedemann Syndrome |
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作 者 | Chen, Chih-ping; | 書刊名 | Taiwanese Journal of Obstetrics & Gynecology |
卷 期 | 46:2 2007.06[民96.06] |
頁 次 | 頁96-102 |
分類號 | 417.134 |
關鍵詞 | Beckwith-wiedemann syndrome; Genetics; Omphalocele; |
語 文 | 英文(English) |
英文摘要 | Beckwith–Wiedemann syndrome (BWS, OMIM 130650) is characterized by macrosomia, macroglossia, visceromegaly, hemihypertrophy, abdominal wall defects, ear creases/pits, neonatal hypoglycemia, polyhydramnios, placentomegaly, placental mesenchymal dysplasia, cardiac defects, nevus flammeus, hemangiomata, and an increased frequency of embryonal tumors. This article provides an overview of BWS including the genetics, genetic diagnosis, genotype/epigenotype–phenotype correlations, association with assisted reproductive technology, and prenatal diagnosis. Omphalocele is an important sonographic marker for BWS. Prenatal detection of omphalocele, fetal overgrowth, polyhydramnios, increased abdominal circumference, placentomegaly and/or placental mesenchymal dysplasia should alert one to the possibility of BWS and prompt a genetic investigation and counseling for BWS. |
本系統中英文摘要資訊取自各篇刊載內容。