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Case Reports in Pediatrics - Volume 2016 2016, Article ID 3198597, 3 pages -

Case Report

Rare Disease Clinic, Department of Pediatrics, SMS Medical College, Jaipur, Rajasthan, India

Division of Genetics and Metabolism, Department of Pediatrics, Maulana Azad Medical College, New Delhi, India

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan

Department of Paediatric Imaging, Tokyo Metropolitan Children’s Medical Center, Fuchu, Tokyo, Japan

Received 26 July 2016; Revised 10 October 2016; Accepted 10 November 2016

Academic Editor: Pietro Strisciuglio

Copyright © 2016 Manisha Goyal et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Stickler syndrome or hereditary progressive arthroophthalmopathy is a heterogeneous group of collagen tissue disorders, characterized by orofacial features, ophthalmological features high myopia, vitreoretinal degeneration, retinal detachment, and presenile cataracts, hearing impairment, mild spondyloepiphyseal dysplasia, and-or early onset arthritis. Stickler syndrome type I ocular form is caused by mutation in the COL2A1 gene. Ptosis and uveitis are relatively rare ophthalmological manifestations of this syndrome. We report an Indian boy having 2710C>T mutation in COL2A1 gene demonstrating short stature, ptosis, and uveitis with Stickler syndrome.





Autor: Manisha Goyal, Seema Kapoor, Shiro Ikegawa, and Gen Nishimura

Fuente: https://www.hindawi.com/



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