Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome

• Hoofdauteurs: Esther Perez-Carbajo (Auteur), Ignacio Zapardiel (Auteur), Luis Sanfrutos-Llorente (Auteur), Sara Cruz-Melguizo (Auteur), Cristina Martinez-Payo (Auteur), Enrique Iglesias-Goy (Auteur)
• Formaat: Boek
• Gepubliceerd in: Hindawi Limited, 2015-01-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: 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...