Achondroplasia with 47, xxy karyotype: a case report of the neonatal diagnosis of an extremely unusual association

BACKGROUND: The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have been previously reported, all of them diagnosed beyond the postnatal period, and only one was molecularly characterized. We describe the first case of this unusual association diagnosed...

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Detalles Bibliográficos
Autores principales: Ros-Pérez, Purificación, Regidor, Francisco J, Colino, Esmeralda, Martínez-Payo, Cristina, Barroso, Eva, Heath, Karen E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3514257/
https://www.ncbi.nlm.nih.gov/pubmed/22747519
http://dx.doi.org/10.1186/1471-2431-12-88

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3514257/
https://www.ncbi.nlm.nih.gov/pubmed/22747519
http://dx.doi.org/10.1186/1471-2431-12-88

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