期刊论文详细信息
Arquivos de Neuro-Psiquiatria | |
Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis | |
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】
CC BY
All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License
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