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Mutation analysis of <jats:italic>FBLN5<\/jats:italic> showed a homozygous c.432C&gt;G missense mutation, and heterozygosity in the parents. This is predicted to cause amino acid substitution p.Cys144Trp. Conjunctivochalasis or redundant folds of conjunctiva and obstructed nasolacrimal ducts have not been reported to be associated with <jats:italic>FBLN5<\/jats:italic> mutations. Histopathological study of the conjunctival biopsy showed that most blood vessels had normal elastic fibers. The gingiva appeared normal, but histologically elastic fibers were defective. Scanning electron micrography of scalp hair demonstrated hypoplastic hair follicles. The cuticles appear intact underneath the filamentous meshwork. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36630","type":"journal-article","created":{"date-parts":[[2014,6,24]],"date-time":"2014-06-24T15:53:35Z","timestamp":1403625215000},"page":"2370-2377","source":"Crossref","is-referenced-by-count":9,"title":["Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel <i>FBLN5<\/i> mutation"],"prefix":"10.1002","volume":"164","author":[{"given":"Piranit Nik","family":"Kantaputra","sequence":"first","affiliation":[{"name":"Center of Excellence in Medical Genetics Research Chiang Mai University Chiang Mai Thailand"},{"name":"Division of Pediatric Dentistry Department of Orthodontics and Pediatric Dentistry Faculty of Dentistry Chiang Mai University Chiang Mai Thailand"},{"name":"Craniofacial Genetics Laboratory Faculty of Dentistry Chiang Mai University Chiang Mai 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