title: Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report.
abstract: Cutis laxa is a connective tissue disorder caused by deficiency of fibro elastic plexus, which can involve multiple organs. It is inherited in autosomal dominant, autosomal recessive, and X-linked. Autosomal recessive cutis laxa type 2, which appears to compromise a spectrum of disorders, starts with severe wrinkly skin syndrome and leads to more severe diseases related to growth and developmental delays and skeletal anomalies. The clinical manifestations in some of cases of Cutis laxa consist of redundant loose skin, pre-and post-natal growth deficiency, mental retardation, large fontanels, and dislocation of the hips. The authors present the case of a female patient with involved internal organ disorder and delay in growth in addition to skin laxity in which gene sequence analysis of PYCR1 indicated C.797G>A mutation.
authors.affiliation: Assistant Professor, Pediatric Department, Hormozgan University of Medical Sciences, Hormozgan, Iran.
authors.forename: Mohammadbagher
authors.initials: M
authors.lastname: Rahmati
authors.affiliation: Student of Medicine, Infectious and Tropical Diseases Research Center, Hormozgan University of Medical Sciences, Hormozgan, Iran.
authors.forename: Maryam
authors.initials: M
authors.lastname: Yazdanparast
authors.affiliation: Internal Medicine Resident, Department of Internal Medicine, Faculty of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
authors.forename: Keramatallah
authors.initials: K
authors.lastname: Jahanshahi
authors.affiliation: M.D., General Physician, Infectious and Tropical Diseases Research Center, Hormozgan University of Medical Sciences, Hormozgan, Iran.
authors.forename: Mohadese
authors.initials: M
authors.lastname: Zakeri
keywords: Cutis laxa Autosomal Recessive; connective tissue disorder; wrinkled skin