Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome
Joint Authors
Zapardiel, Ignacio
Perez-Carbajo, Esther
Sanfrutos-Llorente, Luis
Cruz-Melguizo, Sara
Martinez-Payo, Cristina
Iglesias-Goy, Enrique
Source
Case Reports in Obstetrics and Gynecology
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-2, 2 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-02-18
Country of Publication
Egypt
No. of Pages
2
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Perez-Carbajo, Esther& Zapardiel, Ignacio& Sanfrutos-Llorente, Luis& Cruz-Melguizo, Sara& Martinez-Payo, Cristina& Iglesias-Goy, Enrique. 2015. Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome. Case Reports in Obstetrics and Gynecology،Vol. 2015, no. 2015, pp.1-2.
https://search.emarefa.net/detail/BIM-1059230
Modern Language Association (MLA)
Perez-Carbajo, Esther…[et al.]. Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome. Case Reports in Obstetrics and Gynecology No. 2015 (2015), pp.1-2.
https://search.emarefa.net/detail/BIM-1059230
American Medical Association (AMA)
Perez-Carbajo, Esther& Zapardiel, Ignacio& Sanfrutos-Llorente, Luis& Cruz-Melguizo, Sara& Martinez-Payo, Cristina& Iglesias-Goy, Enrique. Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome. Case Reports in Obstetrics and Gynecology. 2015. Vol. 2015, no. 2015, pp.1-2.
https://search.emarefa.net/detail/BIM-1059230
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1059230