Thanatophoric dysplasia- a case report
A case of thanatophoric dysplasia with sudden death at term is hereby presented. Thanatophoric dysplasia is an uncommon, lethal skeletal dysplasia which is associated with mutation in the extracellular region of fibroblast growth factor receptor 3 (FGFR3). It is an autosommal dominant condition that...
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| Format: | Article |
| Language: | English |
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The Pan African Medical Journal
2020-11-01
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| Series: | The Pan African Medical Journal |
| Subjects: | |
| Online Access: |
https://www.panafrican-med-journal.com/content/article/37/220/pdf/220.pdf
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| _version_ | 1818917139694747648 |
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| author | Olusoji Edward Jagun Mojisola Adejoke Olusola-Bello Abiodun Folashade Adekanmbi Omodele Oluyemisi Jagun Tolani Oduwole |
| author_facet | Olusoji Edward Jagun Mojisola Adejoke Olusola-Bello Abiodun Folashade Adekanmbi Omodele Oluyemisi Jagun Tolani Oduwole |
| author_sort | Olusoji Edward Jagun |
| collection | DOAJ |
| description | A case of thanatophoric dysplasia with sudden death at term is hereby presented. Thanatophoric dysplasia is an uncommon, lethal skeletal dysplasia which is associated with mutation in the extracellular region of fibroblast growth factor receptor 3 (FGFR3). It is an autosommal dominant condition that has sporadic occurrence and early ultrasound scan has not been of great benefit in its detection. Diagnosis is mostly made in the third trimester. The fetal death is usually due to severe respiratory insufficiency from a reduced thoracic capacity and hypoplastic lungs and/or respiratory failure due to brainstem compression. In view of the autosomal dominance of TD, it will be advisable for a woman with previous history to have prenatal screening to relieve parental anxiety and prevent late detection. |
| first_indexed | 2024-12-20T00:29:19Z |
| format | Article |
| id | doaj.art-f6a88e1e61e04e9aa005e04a1e730c04 |
| institution | Directory Open Access Journal |
| issn | 1937-8688 1937-8688 |
| language | English |
| last_indexed | 2024-12-20T00:29:19Z |
| publishDate | 2020-11-01 |
| publisher | The Pan African Medical Journal |
| record_format | Article |
| series | The Pan African Medical Journal |
| spelling | doaj.art-f6a88e1e61e04e9aa005e04a1e730c042022-12-21T20:00:00ZengThe Pan African Medical JournalThe Pan African Medical Journal1937-86881937-86882020-11-013722010.11604/pamj.2020.37.220.2121121211Thanatophoric dysplasia- a case reportOlusoji Edward Jagun0Mojisola Adejoke Olusola-Bello1Abiodun Folashade Adekanmbi2Omodele Oluyemisi Jagun3Tolani Oduwole4 Department of Obstetrics and Gynaecology, Olabisi Onabanjo University Teaching Hospital/Olabisi Onabanjo University Sagamu, Ogun state, Nigeria Department of Radiology Olabisi Onabanjo University Sagamu, Sagamu, Nigeria Department of Paediatrics, Olabisi Onabanjo University Teaching Hospital Sagamu, Sagamu, Nigeria Department of Ophthamology, Babcock University Teaching Hospital, Ilishan, Nigeria Alpha clinic and Ultrasound unit, Sagamu, Ogun state, Nigeria A case of thanatophoric dysplasia with sudden death at term is hereby presented. Thanatophoric dysplasia is an uncommon, lethal skeletal dysplasia which is associated with mutation in the extracellular region of fibroblast growth factor receptor 3 (FGFR3). It is an autosommal dominant condition that has sporadic occurrence and early ultrasound scan has not been of great benefit in its detection. Diagnosis is mostly made in the third trimester. The fetal death is usually due to severe respiratory insufficiency from a reduced thoracic capacity and hypoplastic lungs and/or respiratory failure due to brainstem compression. In view of the autosomal dominance of TD, it will be advisable for a woman with previous history to have prenatal screening to relieve parental anxiety and prevent late detection. https://www.panafrican-med-journal.com/content/article/37/220/pdf/220.pdf fetal deaththanatophorismskeletal dysplasiaultrasound diagnosis |
| spellingShingle | Olusoji Edward Jagun Mojisola Adejoke Olusola-Bello Abiodun Folashade Adekanmbi Omodele Oluyemisi Jagun Tolani Oduwole Thanatophoric dysplasia- a case report The Pan African Medical Journal fetal death thanatophorism skeletal dysplasia ultrasound diagnosis |
| title | Thanatophoric dysplasia- a case report |
| title_full | Thanatophoric dysplasia- a case report |
| title_fullStr | Thanatophoric dysplasia- a case report |
| title_full_unstemmed | Thanatophoric dysplasia- a case report |
| title_short | Thanatophoric dysplasia- a case report |
| title_sort | thanatophoric dysplasia a case report |
| topic | fetal death thanatophorism skeletal dysplasia ultrasound diagnosis |
| url |
https://www.panafrican-med-journal.com/content/article/37/220/pdf/220.pdf
|
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