Trichorhinophalangeal syndrome type II associated with aplasia cutis congenita in a neonate

Giuseppe Daniele Tripodi, Deanna I Dickerman,Ellen K LeMosy, Loretta S Davis

PEDIATRIC DERMATOLOGY(2022)

引用 0|浏览0
暂无评分
摘要
Aplasia cutis congenita (ACC) was diagnosed in a newborn with dysmorphic facial features, oligodactyly of the bilateral feet, and hip instability. The neonate's clinical abnormalities in addition to genetic testing confirmed a diagnosis of trichorhinophalangeal syndrome (TRPS) type II. The possibility of concurrent Adams-Oliver syndrome (AOS) is raised.
更多
查看译文
关键词
aplasia cutis congenita, genetic testing, human congenital abnormalities, trichorhinophalangeal syndrome, type II, TRPS1 protein
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要