Department of Dermatology, Royal Children's Hospital, Melbourne, Victoria, Australia.
Australas J Dermatol. 2011 Aug;52(3):214-7. doi: 10.1111/j.1440-0960.2011.00730.x. Epub 2011 Mar 1.
We present two families in whom infantile myofibromatosis affects two generations. The disease expression in these families suggests an autosomal dominant mode of inheritance. Clinical diagnosis and establishment of the inheritance pattern have important prognostic implications for the affected individual and family members and serves to guide subsequent genetic counselling.
我们呈现了两个家族,其中婴儿型肌纤维瘤病影响了两代人。这些家族中的疾病表现提示其为常染色体显性遗传模式。临床诊断和遗传模式的建立对受影响的个体和家庭成员具有重要的预后意义,并有助于指导后续的遗传咨询。