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Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome
- Source :
- Case Reports in Obstetrics and Gynecology, Vol 2015 (2015)
- Publication Year :
- 2015
- Publisher :
- Wiley, 2015.
-
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.
- Subjects :
- Gynecology and obstetrics
RG1-991
Subjects
Details
- Language :
- English
- ISSN :
- 20906684 and 20906692
- Volume :
- 2015
- Database :
- Directory of Open Access Journals
- Journal :
- Case Reports in Obstetrics and Gynecology
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.426ffa3b2c0b4deaa42f473d24dab496
- Document Type :
- article
- Full Text :
- https://doi.org/10.1155/2015/980749