Journal of the Korean Society of Neonatology  1998;5(2):242-247

A Case of Stickler Syndrome with Large Eyeballs.

Eun Sil LEE 1 ; Jung A KIM ; Ghee Young JUNG ; Hyo Seon CHOI ; Seong Hee PARK

Affiliations

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Keywords

Hereditary progressive arthro-ophthalmopathy

Country

Republic of Korea

Language

Korean

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.