J Korean Soc Neonatol.
1998 Nov;5(2):242-247.
A Case of Stickler Syndrome with Large Eyeballs
- Affiliations
-
- 1Department of Pediatrics, St. Francisco's General Hospital.
- 2Department of Radiology, St. Francisco's General Hospital.
- 3Department of Ophthalmology, Soonchunhyang Medical College, Seoul, Korea.
Abstract
- Stickler syndrome is an autosomal dominant disorder of connective tissue with a wide range of expressivity and incomplete penetrance which is called hereditary progressive arthro-ophthalmopathy. Affected neohates may present with the Pierre-Robin syndrome, progressive myopia, retinal detachment, flat face, hypertelorism, progressive arthritis. Early recognition of the syndrome is important, not only for genetic counselling but also to offer a more precise prognosis and proper treatment of many serious disorders that may occur in affected children. We experienced a case of Stickler syndrome with large eyeballs in a 3-day-old female baby who showed Pierre-Robin anomaly, flat face, hypertelorism, epicanthal folds, long philtrum, micrognathia, deft palate, high congenital myopia, chorioretinal degeneration, thin habitus and hyperextensible joints.
