Title: Antenatal Diagnosis of Thanatophoric Dwarfism: About A Case Report and Review of the Literature
Authors: I. Chanaa, D. Houjjaj, A. Khtira, A. Bouchaib, MH. Alami
DOI: https://dx.doi.org/10.18535/jmscr/v13i08.04
Abstract
Thanatophoric dwarfism is a rare osteochondrodysplasic classified into two types I and II. It is due to a mutation in the FGFR3 (fibroblast growth factor receptor 3) gene located on the short arm of chromosome 4. This morphological anomaly is always lethal, and molecular biology is used to diagnose it with certainty. We report the case of a 25-year-old nulliparous woman with no particular history, whose ultrasound scan at 38 weeks' amenorrhea, performed as part of standard prenatal surveillance, led to the diagnosis of NT type I in the face of highly suggestive fetal dysmorphic images. These included macrocephaly and extremely shortened limbs associated with curved femurs. A 33 cm long, 2600 g dwarf neonate was extracted from the pelvis and admitted to the neonatal intensive care unit for severe respiratory distress at birth, with death at 7 days.
Background: Thanatophoric dwarfism is a rare osteochondrodysplasic classified into two types I and II. It is due to a mutation in the FGFR3 (fibroblast growth factor receptor 3) gene located on the short arm of chromosome 4.
Methods: We report the case of a 25-year-old nulliparous woman with no particular history, whose ultrasound scan at 38 weeks' amenorrhea.
Results: A 33 cm long, 2600 g dwarf neonate was extracted from the pelvis and admitted to the neonatal intensive care unit for severe respiratory distress at birth, with death at 7 days.
Conclusions: NT is a major fetal morphological anomaly for which antenatal diagnosis is imperative. In the absence of molecular biology, obstetrical ultrasonography, sometimes coupled with radiography of the uterine contents, enables NT to be diagnosed and other types of micromelic dwarfism to be ruled out.
Keywords: thanatophoric dwarfism , morphological anomaly ,surgery, case report.
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