产前超声诊断Klippel-Trenaunay-Weber综合征合并脐带血管瘤。
Prenatal ultrasound diagnosis of Klippel-Trenaunay-Weber syndrome associated with umbilical cord hemangioma.
作者信息
Yu Dongmei, Sun Lingyu, Chen Taotao
机构信息
Department of Special Examinations, Qingdao Women and Chlidren's Hospital, Qingdao, China.
出版信息
J Clin Ultrasound. 2021 Mar;49(3):254-256. doi: 10.1002/jcu.22896. Epub 2020 Jul 30.
PMID:33210306
Abstract
We describe a case of prenatal diagnosed Klippel-Trenaunay-Weber syndrome, which mainly manifested as hypertrophy of the left thigh, and was associated with umbilical cord hemangioma and loss of heterozygosity (LOH) for 1q21.2 q44. This case report describes the second reported case associated with umbilical cord hemangioma and the first reported case with LOH for 1q21.2 q44.
摘要
我们描述了一例产前诊断的克-特-韦综合征病例，主要表现为左大腿肥大，并伴有脐部血管瘤以及1q21.2至q44区域的杂合性缺失（LOH）。本病例报告描述了第二例与脐部血管瘤相关的病例以及首例1q21.2至q44区域存在杂合性缺失的病例。
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