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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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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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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.
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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. 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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
title	Thanatophoric dysplasia: a case report
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