A 34-week-old male fetus with short rib polydactyly syndrome (SRPS) type I (Saldino-Noonan) with pancreatic cysts
A 34-week-old male fetus (first diagnosed at 28 weeks of gestation) with short rib polydactyly type I Saldino-Noonan syndrome is presented in this study. In the postmortem examination of the fetus, pancreatic dysplasia, multiple cysts and multicystic dysplastic kidneys, omphalomesenteric cyst...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2003-04-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/2885 |
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| author | Sevim Balci Gülçin Altinok Fulya Tekşen Muzaffer Eryilmaz |
| author_facet | Sevim Balci Gülçin Altinok Fulya Tekşen Muzaffer Eryilmaz |
| author_sort | Sevim Balci |
| collection | DOAJ |
| description |
A 34-week-old male fetus (first diagnosed at 28 weeks of gestation) with short rib polydactyly type I Saldino-Noonan syndrome is presented in this study. In the postmortem examination of the fetus, pancreatic dysplasia, multiple cysts and multicystic dysplastic kidneys, omphalomesenteric cyst, ascites, malrotation, micropenis, undescended testes, bilateral inguinal hernia and hydrops were observed. The parents were first-degree cousins. One male and one female sibling had similar findings and both had died after birth. Only a four-year-old healthy daughter was alive. We believe these findings will be helpful in the differential diagnosis of further lethal skeletal dysplasia cases.
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| format | Article |
| id | doaj-art-a5da581704514bbe869fe4bd2f3668d5 |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2003-04-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-a5da581704514bbe869fe4bd2f3668d52025-08-20T03:01:13ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212003-04-01452A 34-week-old male fetus with short rib polydactyly syndrome (SRPS) type I (Saldino-Noonan) with pancreatic cystsSevim Balci0Gülçin AltinokFulya TekşenMuzaffer EryilmazDepartment of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. A 34-week-old male fetus (first diagnosed at 28 weeks of gestation) with short rib polydactyly type I Saldino-Noonan syndrome is presented in this study. In the postmortem examination of the fetus, pancreatic dysplasia, multiple cysts and multicystic dysplastic kidneys, omphalomesenteric cyst, ascites, malrotation, micropenis, undescended testes, bilateral inguinal hernia and hydrops were observed. The parents were first-degree cousins. One male and one female sibling had similar findings and both had died after birth. Only a four-year-old healthy daughter was alive. We believe these findings will be helpful in the differential diagnosis of further lethal skeletal dysplasia cases. https://turkjpediatr.org/article/view/2885 |
| spellingShingle | Sevim Balci Gülçin Altinok Fulya Tekşen Muzaffer Eryilmaz A 34-week-old male fetus with short rib polydactyly syndrome (SRPS) type I (Saldino-Noonan) with pancreatic cysts The Turkish Journal of Pediatrics |
| title | A 34-week-old male fetus with short rib polydactyly syndrome (SRPS) type I (Saldino-Noonan) with pancreatic cysts |
| title_full | A 34-week-old male fetus with short rib polydactyly syndrome (SRPS) type I (Saldino-Noonan) with pancreatic cysts |
| title_fullStr | A 34-week-old male fetus with short rib polydactyly syndrome (SRPS) type I (Saldino-Noonan) with pancreatic cysts |
| title_full_unstemmed | A 34-week-old male fetus with short rib polydactyly syndrome (SRPS) type I (Saldino-Noonan) with pancreatic cysts |
| title_short | A 34-week-old male fetus with short rib polydactyly syndrome (SRPS) type I (Saldino-Noonan) with pancreatic cysts |
| title_sort | 34 week old male fetus with short rib polydactyly syndrome srps type i saldino noonan with pancreatic cysts |
| url | https://turkjpediatr.org/article/view/2885 |
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