Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications
Abstract
Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer-term survival. One child lived for 17 months and the other was 60 months at the time of publication. We describe two siblings born to parents with achondroplasia with homozygous achondroplasia and long-term survival.
Fields of Study & Subjects
Connective tissue disorders research
Genomics and Rare Diseases
Growth Hormone and Insulin-like Growth Factors
Publication details
- Journal / source
- American Journal of Medical Genetics Part A
- Volume
- 200
- Issue
- 6
- Pages
- 1372–1377
- Publication date
- 16 January 2026
- Language
- EN