Table of Contents Author Guidelines Submit a Manuscript

This article has been retracted as the same case report was found to have been presented in the following previously published article: “Achondroplasia with 47, xxy karyotype: A case report of the neonatal diagnosis of an extremely unusual association,” BMC Pediatrics 2012, 12:88. The article has also been published without the consent of Dr. Cristina Martinez-Payo. The first author, Dr. Esther Perez-Carbajo, assumes full responsibility.

View the full Retraction here.


  1. E. Perez-Carbajo, I. Zapardiel, L. Sanfrutos-Llorente, S. Cruz-Melguizo, C. Martinez-Payo, and E. Iglesias-Goy, “Prenatal diagnosis of concurrent achondroplasia and klinefelter syndrome,” Case Reports in Obstetrics and Gynecology, vol. 2015, Article ID 980749, 2 pages, 2015.
Case Reports in Obstetrics and Gynecology
Volume 2015, Article ID 980749, 2 pages
Case Report

Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome

1Obstetrics and Gynecology Department, Puerta de Hierro Majadahonda University Hospital, 28222 Madrid, Spain
2Obstetrics and Gynecology Department, La Paz University Hospital, 28046 Madrid, Spain

Received 6 December 2014; Accepted 5 February 2015

Academic Editor: Giovanni Monni

Copyright © 2015 Esther Perez-Carbajo et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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 postnatally. We report the fifth case described of this uncommon association and its prenatal diagnosis. In cases of prenatal diagnosis of achondroplasia with additional suspicious morphological abnormalities, an invasive test such as amniocentesis must be carried out to assess the karyotype normality.