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A Case of Synophthalmia with Chromosomal Anomaly: 46, XX, -15, t (15q, 21q)
Journal of the Korean Pediatric Society ; : 854-860, 1994.
Artigo em Coreano | WPRIM | ID: wpr-212365
ABSTRACT
A synophthalmia, another form of cyclopia, in which the element of the two eyes are partially fused to form an apparently single eye in the middle of the forehead. The synophthalmia is a result of complex, neural plate misdevelopment syndrome involving the eye, brain, skull and face. It is well known that synophthalmia is due to heterogenous causes, most of which chromosomal imbalances. We experienced a case of synophthalmia associated with proboscis, alobar holoprosencephaly and chromosomal anomaly 46, XX, -15,t (15 q, 21 q). Diagnosis was confirmed by brain MRI and autopsy, The patient died about 20 hours of age and autopsy was done. A brief review of the literatures was also presented.
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Crânio / Autopsia / Encéfalo / Imageamento por Ressonância Magnética / Holoprosencefalia / Diagnóstico / Placa Neural / Testa Tipo de estudo: Estudo diagnóstico Limite: Humanos Idioma: Coreano Revista: Journal of the Korean Pediatric Society Ano de publicação: 1994 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Crânio / Autopsia / Encéfalo / Imageamento por Ressonância Magnética / Holoprosencefalia / Diagnóstico / Placa Neural / Testa Tipo de estudo: Estudo diagnóstico Limite: Humanos Idioma: Coreano Revista: Journal of the Korean Pediatric Society Ano de publicação: 1994 Tipo de documento: Artigo