TY - JOUR A2 - Strisciuglio, Pietro AU - Goyal, Manisha AU - Kapoor, Seema AU - Ikegawa, Shiro AU - Nishimura, Gen PY - 2016 DA - 2016/11/28 TI - Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations SP - 3198597 VL - 2016 AB - 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 COL2A1gene. Ptosis and uveitis are relatively rare ophthalmological manifestations of this syndrome. We report an Indian boy having 2710C>T mutation in COL2A1gene demonstrating short stature, ptosis, and uveitis with Stickler syndrome. SN - 2090-6803 UR - https://doi.org/10.1155/2016/3198597 DO - 10.1155/2016/3198597 JF - Case Reports in Pediatrics PB - Hindawi Publishing Corporation KW - ER -