alexa Shwartz Jampel Syndrome: Rarest of the Rarest Case/A Ra
ISSN: 2161-0665

Pediatrics & Therapeutics
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Case Report

Shwartz Jampel Syndrome: Rarest of the Rarest Case/A Rare Cause of Blepharospasm

Vini Badlani*, Mohan Rajan, Senthil Nathan, Bina John and Shreyas Shah

Department of Ophthalmology, Aravind Eye Hospital, Coimbatore, India

*Corresponding Author:
Vini Badlani
Department of Ophthalmology
Aravind Eye Hospital
Kandivli (West) Mumbai, Maharashtra, 400067, India
Tel: 91-9003098510
E-mail: [email protected]

Received Date: Apr 25, 2017; Accepted Date: May 08, 2017; Published Date: May 10, 2017

Citation: Badlani V, Rajan M, Nathan S, John B, Shah S (2017) Shwartz Jampel Syndrome: Rarest of the Rarest Case/A Rare Cause of Blepharospasm. Pediatr Ther 7: 318. doi:10.4172/2161-0665.1000318

Copyright: © 2017 Badlani V, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution and reproduction in any medium, provided the original author and source are credited.

 

Abstract

We report a case of 4 year old girl presenting with the inability to open her left eye, which was identified as blepharospasm. She was also found to have pursed lips, micrognathia and puckered facial appearance, all of which are characteristic of Schwartz jample syndrome. Schwartz jample syndrome is a rare disorder that harbors a mutation in the HSPG gene on chromosome 1.

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