Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis.
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.
Carvalho
Daniel R
DR
Hospital das Clínicas, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brazil.
Trad
Clovis S
CS
Pina-Neto
João M
JM
D002675:Child, Preschool; D003398:Craniosynostoses / Q000150:complications / Q000235:genetics*; D006801:Humans; D007713:Klinefelter Syndrome / Q000150:complications / Q000235:genetics*; D008297:Male; D011218:Prader-Willi Syndrome / Q000150:complications / Q000235:genetics*