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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Bibliographic Details
Published in:The Pan African medical journal 2020, Vol.37 (220), p.220
Main Authors: Jagun, Olusoji Edward, Olusola-Bello, Mojisola Adejoke, Adekanmbi, Abiodun Folashade, Jagun, Omodele Oluyemisi, Oduwole, Tolani
Format: Article
Language:English
Subjects:
Abdomen
Adult
Bones
Breech presentation
Case Report
Case reports
Female
fetal death
Fetuses
Humans
Induced labor
Medical diagnosis
Mutation
Pregnancy
Pregnancy Trimester, Third
Prenatal care
Receptor, Fibroblast Growth Factor, Type 3 - genetics
Respiratory failure
skeletal dysplasia
Teaching hospitals
Thanatophoric Dysplasia - diagnostic imaging
Thanatophoric Dysplasia - genetics
thanatophorism
Ultrasonic imaging
Ultrasonography, Prenatal
ultrasound diagnosis
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Summary: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.
ISSN:1937-8688
1937-8688
DOI:10.11604/pamj.2020.37.220.21211