title: Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations.
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 theCOL2A1gene. Ptosis and uveitis are relatively rare ophthalmological manifestations of this syndrome. We report an Indian boy having 2710C>T mutation inCOL2A1gene demonstrating short stature, ptosis, and uveitis with Stickler syndrome.
authors.affiliation: Rare Disease Clinic, Department of Pediatrics, SMS Medical College, Jaipur, Rajasthan, India.
authors.forename: Manisha
authors.identifier: 0000-0001-7064-7617
authors.initials: M
authors.lastname: Goyal
authors.affiliation: Division of Genetics & Metabolism, Department of Pediatrics, Maulana Azad Medical College, New Delhi, India.
authors.forename: Seema
authors.initials: S
authors.lastname: Kapoor
authors.affiliation: Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
authors.forename: Shiro
authors.initials: S
authors.lastname: Ikegawa
authors.affiliation: Department of Paediatric Imaging, Tokyo Metropolitan Children's Medical Center, Fuchu, Tokyo, Japan.
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura