Related Experiment Videos
An infant with thanatophoric dwarfism surviving 169 days
Clinical Genetics
|February 1, 1986
Summary
This study details a rare case of thanatophoric dwarfism in a female infant who lived for 169 days. Genetic factors contributing to this severe skeletal dysplasia are briefly examined.
Area of Science:
- Medical Genetics
- Pediatrics
- Skeletal Dysplasias
Background:
- Thanatophoric dwarfism is a severe, lethal skeletal dysplasia characterized by extreme micromelia, a narrow thorax, and macrocephaly.
- It is the most common lethal form of dwarfism, typically resulting in stillbirth or neonatal death.