Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome

• Main Authors: Esther Perez-Carbajo (Author), Ignacio Zapardiel (Author), Luis Sanfrutos-Llorente (Author), Sara Cruz-Melguizo (Author), Cristina Martinez-Payo (Author), Enrique Iglesias-Goy (Author)
• פורמט: ספר
• יצא לאור: Hindawi Limited, 2015-01-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

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...