Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications
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.
Authors
- Kimberly Wallis
- Michelle Merrill
- Jason Laufman
- Hannah Singerline
Institutions
- Akron Children's Hospital (US)
- Case Western Reserve University (US)
Publication Details
- Journal
- American Journal of Medical Genetics Part A
- Published
- 2026-01-16
- DOI
- https://doi.org/10.1002/ajmga.70057
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00