Title: Hereditary Progressive Arthro-ophthalmodystrophy -Stickler Syndrome- A Rare Case Report
Authors: Dr (Prof) Vijay Bhaisare, Dr Jaishree Lilani, Dr Sanchaikya Thakur, Dr Isha Gupta
DOI: https://dx.doi.org/10.18535/jmscr/v8i5.16
Abstract
Introduction
- It is a progressive autosomal dominant connective tissue disorder due mutation in type ii procollagen (COL2A1) located at long arm of chromosome 12.
- Systemic Features
- Premature Osteoarthritis
- Hearing Loss
- Skeletal and facial malformations (hypoplasias, cleft palate, depressed nasal bridge)
- Cardiovascular Abnormalities
