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

## TL;DR

This case report describes a newborn diagnosed with thanatophoric dysplasia before birth, a rare and severe skeletal disorder that is often fatal shortly after birth.

## Contribution

The paper contributes a clinical case of TD without molecular genetic confirmation, highlighting diagnostic challenges.

## Key findings

- The newborn exhibited typical features of thanatophoric dysplasia, including severe micromelia and frontal bossing.
- The diagnosis was made antenatally based on clinical and imaging findings, without molecular confirmation.
- The case underscores the importance of clinical evaluation in the absence of genetic testing.

## 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.