Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome

• Үндсэн зохиолчид: Esther Perez-Carbajo (Зохиогч), Ignacio Zapardiel (Зохиогч), Luis Sanfrutos-Llorente (Зохиогч), Sara Cruz-Melguizo (Зохиогч), Cristina Martinez-Payo (Зохиогч), Enrique Iglesias-Goy (Зохиогч)
• Формат: Ном
• Хэвлэсэн: Hindawi Limited, 2015-01-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: 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...