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

• المؤلفون الرئيسيون: Kantaputra P.N., Kaewgahya M., Wiwatwongwana A., Wiwatwongwana D., Sittiwangkul R., Iamaroon A., Dejkhamron P.
• التنسيق: مقال
• اللغة: English
• منشور في: Wiley-Liss Inc. 2014
• الوصول للمادة أونلاين: http://www.scopus.com/inward/record.url?eid=2-s2.0-84905837090&partnerID=40&md5=c93478fbfca80ee3bb9abaf122d8d54d; http://cmuir.cmu.ac.th/handle/6653943832/37573
• المؤسسة: Chiang Mai University

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...