Work

Type I Thanatophoric Dysplasia: Clinical Outcome in the Absence of Molecular Genetic Confirmation: A Case Report

Year: 2026

Type: article

Abstract: Thanatophoric dysplasia (TD) is the most common lethal congenital skeletal dysplasia, characterized by severe micromelia, a narrow thorax, and frontal bossing due to activating mutations in the fibroblast growth factor receptor 3 (FGFR3) gene on chromosome 4p16.3. First described by Maroteaux and Lamy in 1967, it carries a near-uniform perinatal mortality from respiratory insufficiency. We present the case of a male newborn in whom the diagnosis of thanatophoric dysplasia was established during the antenatal period.

Source: Cureus

DOI: 10.7759/cureus.103819

Authors: Khadija Mesbah, Kaoutar Ettoini, Kawtar Khabbach, Yousra El Boussaadni, Abdallah Oulmaati

Institution: Centre Hospitalier Universitaire Mohammed VI

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W7130368897