Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation

• Main Authors: Kantaputra,P.N.I., Kaewgahya,M., Wiwatwongwana,A., Wiwatwongwana,D., Sittiwangkul,R., Iamaroon,A., Dejkhamron,P.
• 格式: Article
• 出版: Wiley-Liss Inc. 2015
• 主題: Genetics (clinical); Genetics
• 在線閱讀: http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=84905837090&origin=inward; http://cmuir.cmu.ac.th/handle/6653943832/38295

We report on a 4-year-old girl with autosomal recessive cutis laxa, type IA, or pulmonary emphysema type (ARCL1A; OMIM #219100), with loose and wrinkled skin, mitral and tricuspid valve prolapse, conjunctivochalasis, obstructed nasolacrimal ducts, hypoplastic maxilla, and early childhood-onset pulmo...