2006Unpublished venueRequires access

DOWN SYNDROME WITH CONGENITAL HYDROCEPHALUS

Cassiano Mateus Forcelini, Adroaldo Baseggio Mallmann, Paulo Sérgio Crusius, Cláudio Albano Seibert, Marcelo Ughini Crusius, Denise Isabel Zandoná, Charles Carazzo, Cassiano Ughini Crusius, Eduardo Goellner, Jean Ragnini, Luciano Bambini Manzato, Gustavo Winkelmann, Aline Vieira Lima, Manfred Georg Bauermann

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Abstract

Down syndrome is the most frequent genetic cause of mental retardation. Although usually presenting dysmorphic features and organ malformations, it is rarely associated with congenital hydro- cephalus. The case of male neonate whose hydrocephalus was detected since the pregnancy and was dis- covered to have the syndrome at birth is reported. Chromosomal analysis confirmed the genetic disorder, and hydrocephalus was treated with ventriculoperitoneal shunt because of abnormal increase of head cir- cumference. The patient has been accompanied and his development is considered normal when com- pared to the expected for those affected by the syndrome.

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What this paper is about

Down syndrome is the most frequent genetic cause of mental retardation. Although usually presenting dysmorphic features and organ malformations, it is rarely associated with congenital hydro- cephalus. The case of male neonate whose hydrocephalus was detected since the pregnancy and was dis- covered to have the syndrome at birth is reported. Chromosomal analysis confirmed the genetic disorder, and hydrocephalus was treated with ventriculoperitoneal shunt because of abnormal increase of head cir- cumference. The patient has been accompanied and his development is considered normal when com- pared to the expected for those affected by the syndrome.

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Available abstract

Down syndrome is the most frequent genetic cause of mental retardation. Although usually presenting dysmorphic features and organ malformations, it is rarely associated with congenital hydro- cephalus. The case of male neonate whose hydrocephalus was detected since the pregnancy and was dis- covered to have the syndrome at birth is reported. Chromosomal analysis confirmed the genetic disorder, and hydrocephalus was treated with ventriculoperitoneal shunt because of abnormal increase of head cir- cumference. The patient has been accompanied and his development is considered normal when com- pared to the expected for those affected by the syndrome.

Key concepts: Hydrocephalus, Congenital hydrocephalus, Shunt (medical), Medicine, Genetic syndromes, Pediatrics, Pregnancy, Congenital malformations

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