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| Prenatal Ultrasonographic Detection of Thanatophoric Dysplasia: A Case Report |
N. Mekkaoui, M. Bendahhou Idrissi, M.K.Saoud, N. Mamouni, S. Errarhay, C. Bouchikhi, A.Banani
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Abstract:
Thanatophoric dysplasia is a rare osteochondrodysplasia classified in two types I and II, due to a mutation of the FGFR3 (fibroblast growth factor receptor 3) gene located on the short arm of chromosome 4. It is a rare lethal malformation for which early prenatal detection by obstetrical ultrasound allows to propose a therapeutic termination of the pregnancy to the pregnant woman in order to avoid any psychological and obstetrical trauma. We report the case of a 31-year-old woman, nulliparous, without any particular history in whom the ultrasound performed at the 31st week of amenorrhea allowed us to make the diagnosis of thanatophoric dysplasia type I in front of very evocative images of fetal dysmorphism. Because of the rarity of this condition we report this case of tanatophoric dysplasia with a brief review of the literature.
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