title: Prenatal diagnosis of concurrent achondroplasia and klinefelter syndrome.
abstract: 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.
authors: Obstetrics and Gynecology Department, Puerta de Hierro Majadahonda University Hospital, 28222 Madrid, Spain.
authors: Esther
authors: E
authors: Perez-Carbajo
authors: Obstetrics and Gynecology Department, La Paz University Hospital, 28046 Madrid, Spain.
authors: Ignacio
authors: 0000-0002-9175-7767
authors: I
authors: Zapardiel
authors: Obstetrics and Gynecology Department, Puerta de Hierro Majadahonda University Hospital, 28222 Madrid, Spain.
authors: Luis
authors: L
authors: Sanfrutos-Llorente
authors: Obstetrics and Gynecology Department, Puerta de Hierro Majadahonda University Hospital, 28222 Madrid, Spain.
authors: Sara
authors: S
authors: Cruz-Melguizo
authors: Obstetrics and Gynecology Department, Puerta de Hierro Majadahonda University Hospital, 28222 Madrid, Spain.
authors: Cristina
authors: C
authors: Martinez-Payo
authors: Obstetrics and Gynecology Department, Puerta de Hierro Majadahonda University Hospital, 28222 Madrid, Spain.
authors: Enrique
authors: E
authors: Iglesias-Goy