A Case of Stickler Syndrome with Large Eyeballs
Journal of the Korean Society of Neonatology
;
: 242-247, 1998.
Artigo
em Coreano
| WPRIM
| ID: wpr-44512
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Palato
/
Síndrome de Pierre Robin
/
Artrite
/
Prognóstico
/
Descolamento Retiniano
/
Tecido Conjuntivo
/
Penetrância
/
Miopia Degenerativa
/
Hipertelorismo
/
Articulações
Tipo de estudo:
Estudo prognóstico
Limite:
Criança
/
Feminino
/
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Society of Neonatology
Ano de publicação:
1998
Tipo de documento:
Artigo
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