有其父必有其女——马凡综合征家族中出现的遗传性皮肤发育不全：一例报告
Like Father, Like Daughter-inherited cutis aplasia occurring in a family with Marfan syndrome: a case report.
作者信息
Islam Yasmin Florence Khodeja, Williams Charles A, Schoch Jennifer Jane, Andrews Israel David
机构信息
University of Florida College of Medicine Gainesville Florida USA.
Emeritus of Pediatrics and Medical Genetics Division of Genetics and Metabolism University of Florida College of Medicine Gainesville Florida USA.
出版信息
Clin Case Rep. 2016 Dec 20;5(1):66-68. doi: 10.1002/ccr3.750. eCollection 2017 Jan.
We present the case of a newborn with co-occurrence of Marfan syndrome and aplasia cutis congenita (ACC) and a family history significant for Marfan syndrome and ACC in the father. This case details a previously unreported mutation in Marfan syndrome and describes a novel coinheritance of Marfan syndrome and ACC.
我们报告了一例患有马凡综合征和先天性皮肤发育不全（ACC）的新生儿病例，其父亲有马凡综合征和ACC的家族史。该病例详细介绍了马凡综合征中一种先前未报道的突变，并描述了马凡综合征和ACC的一种新的共同遗传情况。
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