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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.
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


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