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3C syndrome [cranio-cerebello-cardiac dysplasia] or ritscher schinzel syndrome: a rare case report with review of literature
KMJ-Kuwait Medical Journal. 2006; 38 (2): 138-140
en Inglés | IMEMR | ID: emr-78831
ABSTRACT
A very rare case of 3C [cranio-cerebello-cardiac] inheritance of this condition due to consanguinity syndrome is reported for the first time in an Arab infant between the parents. Need of antenatal diagnosis and from Kuwait. The diagnostic features and differential genetic counseling is highlighted for this prognostically diagnosis is discussed. We support the autosomal recessive poor condition.
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Índice: IMEMR (Mediterraneo Oriental) Asunto principal: Síndrome / Cerebelo / Revisión / Consanguinidad / Anomalías Craneofaciales / Cardiopatías Congénitas Tipo de estudio: Informe de Casos Límite: Femenino / Humanos Idioma: Inglés Revista: Kuwait Med. J. Año: 2006

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Índice: IMEMR (Mediterraneo Oriental) Asunto principal: Síndrome / Cerebelo / Revisión / Consanguinidad / Anomalías Craneofaciales / Cardiopatías Congénitas Tipo de estudio: Informe de Casos Límite: Femenino / Humanos Idioma: Inglés Revista: Kuwait Med. J. Año: 2006