Thanatophoric dysplasia: a case report.
| Autor: | Jagun OE; Department of Obstetrics and Gynaecology, Olabisi Onabanjo University Teaching Hospital, Olabisi Onabanjo University Sagamu, Ogun state, Nigeria., Olusola-Bello MA; Department of Radiology Olabisi Onabanjo University Sagamu, Sagamu, Nigeria., Adekanmbi AF; Department of Paediatrics, Olabisi Onabanjo University Teaching Hospital Sagamu, Sagamu, Nigeria., Jagun OO; Department of Ophthamology, Babcock University Teaching Hospital, Ilishan, Nigeria., Oduwole T; Alpha Clinic and Ultrasound Unit, Sagamu, Ogun state, Nigeria. |
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| Jazyk: | angličtina |
| Zdroj: | The Pan African medical journal [Pan Afr Med J] 2020 Nov 05; Vol. 37, pp. 220. Date of Electronic Publication: 2020 Nov 05 (Print Publication: 2020). |
| DOI: | 10.11604/pamj.2020.37.220.21211 |
| Abstrakt: | 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. Competing Interests: The authors declare no competing interests. (Copyright: Olusoji Edward Jagun et al.) |
| Databáze: | MEDLINE |
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