婴儿肌纤维瘤病：常染色体显性遗传及可变外显率的家族报告。

Infantile myofibromatosis: report on a family with autosomal dominant inheritance and variable penetrance.

机构信息

Department of Pediatric Oncology, Stollery Children Hospital, University of Alberta, Edmonton, AB, Canada.

出版信息

J Pediatr Surg. 2012 Dec;47(12):2312-5. doi: 10.1016/j.jpedsurg.2012.09.046.

DOI:10.1016/j.jpedsurg.2012.09.046

Abstract

Infantile myofibromatosis (IM) is a benign tumor occurring in infants and young children. Familial IM is rare and the inheritance pattern of IM is unclear. We report on a unique family with four individuals having IM of varying degrees of severity with autosomal dominant inheritance pattern and variable penetrance.

摘要

婴儿肌纤维瘤病（IM）是一种发生在婴儿和幼儿中的良性肿瘤。家族性 IM 较为罕见，其遗传方式尚不清楚。我们报告了一个独特的家族，该家族有 4 名个体患有不同程度的 IM，遗传方式为常染色体显性遗传，外显率可变。