Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome

Achondroplasia is the most frequent nonlethal skeletal dysplasia, with a prevalence of 1 : 5000 to 1 : 40,000 live births, and it is caused by a fibroblast growth factor receptor alteration. The combination of achondroplasia and Klinefelter syndrome is extremely rare and just four reports have been...

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Bibliographic Details
Main Authors: Esther Perez-Carbajo, Ignacio Zapardiel, Luis Sanfrutos-Llorente, Sara Cruz-Melguizo, Cristina Martinez-Payo, Enrique Iglesias-Goy
Format: Article
Language:English
Published: Hindawi Limited 2015-01-01
Series:Case Reports in Obstetrics and Gynecology
Online Access:http://dx.doi.org/10.1155/2015/980749