A Case of Stickler Syndrome with Large Eyeballs
Journal of the Korean Society of Neonatology
;
: 242-247, 1998.
Artículo
en 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Hueso Paladar
/
Síndrome de Pierre Robin
/
Artritis
/
Pronóstico
/
Desprendimiento de Retina
/
Tejido Conectivo
/
Penetrancia
/
Miopía Degenerativa
/
Hipertelorismo
/
Articulaciones
Tipo de estudio:
Estudio pronóstico
Límite:
Niño
/
Femenino
/
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Society of Neonatology
Año:
1998
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS