Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis Síndrome de Prader-Willi em paciente com Klinefelter (cariótipo XXY) e craniossinostose

Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis Síndrome de Prader-Willi em paciente com Klinefelter (cariótipo XXY) e craniossinostose

Prader-Willi syndrome is a mental retardation genetic disorder also characterized by hypogonadism, hyperphagia and obesity. We report on a four-years-old boy, born to consanguineous parents, with uncommon co-occurrence of Prader-Willi syndrome, 47,XXY karyotype (Klinefelter syndrome) and coronal cra...

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Bibliographic Details
Main Authors: Daniel R. Carvalho, Clovis S. Trad, João M. Pina-Neto
Format: Article
Language:English
Published: Academia Brasileira de Neurologia (ABNEURO) 2006-06-01
Series:Arquivos de Neuro-Psiquiatria
Subjects:
cariótipo XXY
síndrome de Prader-Willi
síndrome de Klinefelter
craniossinostose
XXY karyotype
Prader-Willi syndrome
Klinefelter syndrome
craniosynostosis
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2006000200024

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2006000200024

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