Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome

@inproceedings{PerezCarbajo2015PrenatalDO,
  title={Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome},
  author={Esther Perez-Carbajo and Ignacio Zapardiel and Luis Sanfrutos-Llorente and Sara Cruz-Melguizo and Cristina Mart{\'i}nez-Payo and Enrique Iglesias-Goy},
  booktitle={Case reports in obstetrics and gynecology},
  year={2015}
}
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 published in the literature, which were all diagnosed… CONTINUE READING