Repository of Research and Investigative Information

Repository of Research and Investigative Information

Hormozgan University of Medical Sciences

Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report.

(2015) Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report. Electronic physician.

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Official URL: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC46238...

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.

Item Type: Article
Keywords: Cutis laxa Autosomal Recessive,connective tissue disorder,wrinkled skin
Subjects: WR Dermatology > WR 140-340 Skin Diseases
WS Pediatrics > WS 200-342 Diseases of Children and Adolescents
Divisions: Education Vice-Chancellor Department > Faculty of Medicine > Departments of Clinical Sciences > Department of Pediatrics
Research Vice-Chancellor Department > Infectious and Tropical Diseases Research Center
Depositing User: مهندس هدی فهیم پور
URI: http://eprints.hums.ac.ir/id/eprint/4794

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