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.
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| Main Authors: | , , |
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| Format: | Digital revista |
| Language: | English |
| Published: |
Academia Brasileira de Neurologia - ABNEURO
2006
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| Online Access: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2006000200024 |
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| Summary: | 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. |
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