Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

Key Points

• This research aims to challenge the belief that homozygous achondroplasia leads to perinatal lethality by presenting cases of longer-term survival.
• Case series analysis of two children from a single family with homozygous achondroplasia.
• Clinical observations documented over a period of their lives.
• Evaluation of growth patterns and medical interventions undertaken.
• One child survived for 17 months and another for 60 months.
• Instances of rare long-term survival in homozygous achondroplasia cases are documented.
• Findings highlight the need for re-evaluation of medical approaches and support for affected families.