Spondylocostal dysplasia and cardiac anomalies in one dizygotic twin
A 13-day-old, preterm, male infant was referred for respiratory distress syndrome (RDS) and jaundice. His twin sister had died of RDS on the second day of life in another hospital. The patient had typical features of spondylocostal dysplasia. Ventricular septal defect (VSD) and patent ductus...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
1996-07-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/3507 |
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| _version_ | 1850033410476605440 |
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| author | F Ozkinay M Akisü R Oral N Tansuğ R Ozyürek N Kültürsay |
| author_facet | F Ozkinay M Akisü R Oral N Tansuğ R Ozyürek N Kültürsay |
| author_sort | F Ozkinay |
| collection | DOAJ |
| description |
A 13-day-old, preterm, male infant was referred for respiratory distress syndrome (RDS) and jaundice. His twin sister had died of RDS on the second day of life in another hospital. The patient had typical features of spondylocostal dysplasia. Ventricular septal defect (VSD) and patent ductus arteriosus (PDA) were also diagnosed by echocardiographic evaluation. Parental consanguinity was not reported. There were no other similar cases in the family, and his twin sister and five-year-old living sister were free of deformities. Therefore, autosomal-recessive transmission may be considered first; however, because the patient was the only affected individual in this family, second denovo autosomal-dominant mutation should also be considered. This is the first reported case of spondylocostal dysplasia with VSD and PDA to our knowledge.
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| format | Article |
| id | doaj-art-945da92ad78a4e749a49c67c5d87f522 |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 1996-07-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-945da92ad78a4e749a49c67c5d87f5222025-08-20T02:58:14ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64211996-07-01383Spondylocostal dysplasia and cardiac anomalies in one dizygotic twinF Ozkinay0M AkisüR OralN TansuğR OzyürekN KültürsayDepartment of Pediatrics, Ege University Faculty of Medicine, Bornova, Izmir. A 13-day-old, preterm, male infant was referred for respiratory distress syndrome (RDS) and jaundice. His twin sister had died of RDS on the second day of life in another hospital. The patient had typical features of spondylocostal dysplasia. Ventricular septal defect (VSD) and patent ductus arteriosus (PDA) were also diagnosed by echocardiographic evaluation. Parental consanguinity was not reported. There were no other similar cases in the family, and his twin sister and five-year-old living sister were free of deformities. Therefore, autosomal-recessive transmission may be considered first; however, because the patient was the only affected individual in this family, second denovo autosomal-dominant mutation should also be considered. This is the first reported case of spondylocostal dysplasia with VSD and PDA to our knowledge. https://turkjpediatr.org/article/view/3507 |
| spellingShingle | F Ozkinay M Akisü R Oral N Tansuğ R Ozyürek N Kültürsay Spondylocostal dysplasia and cardiac anomalies in one dizygotic twin The Turkish Journal of Pediatrics |
| title | Spondylocostal dysplasia and cardiac anomalies in one dizygotic twin |
| title_full | Spondylocostal dysplasia and cardiac anomalies in one dizygotic twin |
| title_fullStr | Spondylocostal dysplasia and cardiac anomalies in one dizygotic twin |
| title_full_unstemmed | Spondylocostal dysplasia and cardiac anomalies in one dizygotic twin |
| title_short | Spondylocostal dysplasia and cardiac anomalies in one dizygotic twin |
| title_sort | spondylocostal dysplasia and cardiac anomalies in one dizygotic twin |
| url | https://turkjpediatr.org/article/view/3507 |
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