Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis

Arquivos de Neuro-Psiquiatria

Daniel R. Carvalho¹  Clovis S. Trad¹  João M. Pina-neto¹ 

[1] ,Universidade de São Paulo Faculdade de Medicina de Ribeirão Preto Hospital das ClínicasRibeirão Preto SP ,Brazil

关键词: XXY karyotype;    Prader-Willi syndrome;    Klinefelter syndrome;    craniosynostosis;    cariótipo XXY;    síndrome de Prader-Willi;    síndrome de Klinefelter;    craniossinostose;   

DOI  :  10.1590/S0004-282X2006000200024

来源: SciELO

【 摘 要 】

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 craniosynostosis. These are different unrelated conditions and it was not described before in the same patient to the best of our knowledge.

【 授权许可】

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