POSSIBILITIES AND LIMITS OF THERAPY IN A CASE OF HYPOCHONDROPLASIA

Abstract

Hypocondroplasia is an autosomal dominant genetic disease caused by mutations in the receptor 3 of the fi broblast growth factor gene. The short stature’s negative impact on quality of life can be improved by early diagnosis and prompt recombinant growth hormone therapy. The authors present the case of a teenager who lost the chance of this therapy because of a late diagnosis.

Keywords

• hypochondroplasia
• short stature
• growth hormone.