Arquivos de Neuro-Psiquiatria 2006-Jun
Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis.
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Palabras clave
Abstracto
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.