A Case of Stickler Syndrome with Large Eyeballs.

Lee,  Eun Sil; Kim,  Jung A; Jung,  Ghee Young; Choi,  Hyo Seon; Park,  Seong Hee

Case Report

Journal of the Korean Society of Neonatology 1998;5(2):242-247.
Published online January 1, 2001.

A Case of Stickler Syndrome with Large Eyeballs.

Eun Sil Lee, Jung A Kim, Ghee Young Jung, Hyo Seon Choi, Seong Hee Park

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.

Key Words: Hereditary progressive arthro-ophthalmopathy