Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis Síndrome de Prader-Willi em paciente com Klinefelter (cariótipo XXY) e craniossinostose
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 cra...
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Thieme Revinter Publicações
2006-06-01
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| Series: | Arquivos de Neuro-Psiquiatria |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2006000200024 |
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| author | Daniel R. Carvalho Clovis S. Trad João M. Pina-Neto |
| author_facet | Daniel R. Carvalho Clovis S. Trad João M. Pina-Neto |
| author_sort | Daniel R. Carvalho |
| collection | DOAJ |
| description | 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.<br>A síndrome de Prader-Willi é afecção genética de deficiência mental associada a hipogonadismo hipogonadotrófico, hiperfagia e obesidade. Descrevemos o caso de menino de 4 anos de idade, filho de casal consangüíneo, apresentando três condições clínicas não relacionadas: síndrome de Prader-Willi, cariótipo 47,XXY (compatível com síndrome de Klinefelter) e craniossinostose coronal. Ao nosso conhecimento, não foi relatado caso semelhante previamente na literatura. |
| format | Article |
| id | doaj-art-120428daefb74aedb044a23b3d73174d |
| institution | OA Journals |
| issn | 0004-282X 1678-4227 |
| language | English |
| publishDate | 2006-06-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-120428daefb74aedb044a23b3d73174d2025-08-20T02:01:54ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria0004-282X1678-42272006-06-01642a30330510.1590/S0004-282X2006000200024Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis Síndrome de Prader-Willi em paciente com Klinefelter (cariótipo XXY) e craniossinostoseDaniel R. CarvalhoClovis S. TradJoão M. Pina-NetoPrader-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.<br>A síndrome de Prader-Willi é afecção genética de deficiência mental associada a hipogonadismo hipogonadotrófico, hiperfagia e obesidade. Descrevemos o caso de menino de 4 anos de idade, filho de casal consangüíneo, apresentando três condições clínicas não relacionadas: síndrome de Prader-Willi, cariótipo 47,XXY (compatível com síndrome de Klinefelter) e craniossinostose coronal. Ao nosso conhecimento, não foi relatado caso semelhante previamente na literatura.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2006000200024cariótipo XXYsíndrome de Prader-Willisíndrome de KlinefeltercraniossinostoseXXY karyotypePrader-Willi syndromeKlinefelter syndromecraniosynostosis |
| spellingShingle | Daniel R. Carvalho Clovis S. Trad João M. Pina-Neto Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis Síndrome de Prader-Willi em paciente com Klinefelter (cariótipo XXY) e craniossinostose Arquivos de Neuro-Psiquiatria cariótipo XXY síndrome de Prader-Willi síndrome de Klinefelter craniossinostose XXY karyotype Prader-Willi syndrome Klinefelter syndrome craniosynostosis |
| title | Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis Síndrome de Prader-Willi em paciente com Klinefelter (cariótipo XXY) e craniossinostose |
| title_full | Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis Síndrome de Prader-Willi em paciente com Klinefelter (cariótipo XXY) e craniossinostose |
| title_fullStr | Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis Síndrome de Prader-Willi em paciente com Klinefelter (cariótipo XXY) e craniossinostose |
| title_full_unstemmed | Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis Síndrome de Prader-Willi em paciente com Klinefelter (cariótipo XXY) e craniossinostose |
| title_short | Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis Síndrome de Prader-Willi em paciente com Klinefelter (cariótipo XXY) e craniossinostose |
| title_sort | atypical presentation of prader willi syndrome with klinefelter xxy karytype and craniosynostosis sindrome de prader willi em paciente com klinefelter cariotipo xxy e craniossinostose |
| topic | cariótipo XXY síndrome de Prader-Willi síndrome de Klinefelter craniossinostose XXY karyotype Prader-Willi syndrome Klinefelter syndrome craniosynostosis |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2006000200024 |
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