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Case Report | DOI: https://doi.org/GCCWR-CR-25-007.

Antenatal Diagnosis of a Case of Thanatophoric Dwarfism

Laaliaoui Aymen *

pole de Maternite Abderrahim el Harouchi , chu de casablanca,Moroco 

*Corresponding Author: Laaliaoui Aymen, pole de Maternite Abderrahim el Harouchi , chu de casablanca,Moroco

Citation: Laaliaoui Aymen (2025). Antenatal Diagnosis of a Case of Thanatophoric Dwarfism, J Gynecology Care and Child Wellness Research. 2(1) 07, DOI: GCCWR-CR-25-007.

Copyright: Laaliaoui Aymen, et al © (2025). This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Received: 16 May 2025 | Accepted: 26 May 2025 | Published: 05 June 2025

Keywords: micromelic dwarfism; psychological; ultrasound; pregnancy

Abstract

Maroteaux et al. described for the first time, in 1967, thanatophoric dwarfism (NT), an osteochondrodysplasia classified into two types: I and II. [1]. It is an extremely rare anomaly, the incidence of which is estimated at between one case in 20,000 and one case in 40,000 births. It is due to a mutation in the FGFR3 gene (fibroblast growth factor receptor 3) which is located on the short arm of the chromosome. Micromelic dwarfism, macrocrania and pulmonary hypoplasia due to thoracic constriction are clinically observed, as well as an appearance cranial latticeshaped.Training performed on data through October 2023. For type I, there is a reduction and curvature of the long bones, while they remain straight for type II. We also observe a sagging of the vertebral body accompanied by an expansion of the intervertebral spaces.

References

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