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Colpocephaly, a wide clinical spectrum for one cephalic disorder: three new cases from Kuwait
KMJ-Kuwait Medical Journal. 2013; 45 (4): 348-352
em Inglês | IMEMR | ID: emr-139632
ABSTRACT
Colpocephaly is an abnormal enlargement of the occipital horns of both lateral ventricles; it is also described as persistence of the fetal configuration of the lateral ventricles. Since it was first described, Colpocephaly has been found in association with several abnormalities of the brain. The spectrum of clinical presentation is wide, including mainly various degrees of mental retardation, seizures, and motor and visual abnormalities. Approximately 50 cases have been described in children. Herein we report three new cases of Colpocephaly. One of the cases was associated with CHARGE syndrome. To the best of our knowledge, this is the first publication to report such an association
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Índice: IMEMR (Mediterrâneo Oriental) Assunto principal: Aberrações dos Cromossomos Sexuais / Ventrículos Cerebrais / Predisposição Genética para Doença / Síndrome CHARGE / Lobo Occipital Tipo de estudo: Relato de Casos Limite: Feminino / Humanos / Masculino Idioma: Inglês Revista: Kuwait Med. J. Ano de publicação: 2013

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Índice: IMEMR (Mediterrâneo Oriental) Assunto principal: Aberrações dos Cromossomos Sexuais / Ventrículos Cerebrais / Predisposição Genética para Doença / Síndrome CHARGE / Lobo Occipital Tipo de estudo: Relato de Casos Limite: Feminino / Humanos / Masculino Idioma: Inglês Revista: Kuwait Med. J. Ano de publicação: 2013