Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome
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...
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Obstetrics and Gynecology |
| Online Access: | http://dx.doi.org/10.1155/2015/980749 |
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| author | Esther Perez-Carbajo Ignacio Zapardiel Luis Sanfrutos-Llorente Sara Cruz-Melguizo Cristina Martinez-Payo Enrique Iglesias-Goy |
| author_facet | Esther Perez-Carbajo Ignacio Zapardiel Luis Sanfrutos-Llorente Sara Cruz-Melguizo Cristina Martinez-Payo Enrique Iglesias-Goy |
| author_sort | Esther Perez-Carbajo |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-426ffa3b2c0b4deaa42f473d24dab496 |
| institution | Kabale University |
| issn | 2090-6684 2090-6692 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Obstetrics and Gynecology |
| spelling | doaj-art-426ffa3b2c0b4deaa42f473d24dab4962025-02-03T06:11:25ZengWileyCase Reports in Obstetrics and Gynecology2090-66842090-66922015-01-01201510.1155/2015/980749980749Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter SyndromeEsther Perez-Carbajo0Ignacio Zapardiel1Luis Sanfrutos-Llorente2Sara Cruz-Melguizo3Cristina Martinez-Payo4Enrique Iglesias-Goy5Obstetrics and Gynecology Department, Puerta de Hierro Majadahonda University Hospital, 28222 Madrid, SpainObstetrics and Gynecology Department, La Paz University Hospital, 28046 Madrid, SpainObstetrics and Gynecology Department, Puerta de Hierro Majadahonda University Hospital, 28222 Madrid, SpainObstetrics and Gynecology Department, Puerta de Hierro Majadahonda University Hospital, 28222 Madrid, SpainObstetrics and Gynecology Department, Puerta de Hierro Majadahonda University Hospital, 28222 Madrid, SpainObstetrics and Gynecology Department, Puerta de Hierro Majadahonda University Hospital, 28222 Madrid, SpainAchondroplasia 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.http://dx.doi.org/10.1155/2015/980749 |
| spellingShingle | Esther Perez-Carbajo Ignacio Zapardiel Luis Sanfrutos-Llorente Sara Cruz-Melguizo Cristina Martinez-Payo Enrique Iglesias-Goy Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome Case Reports in Obstetrics and Gynecology |
| title | Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome |
| title_full | Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome |
| title_fullStr | Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome |
| title_full_unstemmed | Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome |
| title_short | Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome |
| title_sort | prenatal diagnosis of concurrent achondroplasia and klinefelter syndrome |
| url | http://dx.doi.org/10.1155/2015/980749 |
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