POSSIBILITIES AND LIMITS OF THERAPY IN A CASE OF HYPOCHONDROPLASIA

Revista Romana de PEDIATRIE | Volumul LXIII, Nr. 1, An 2014

ISSN 1454-0398 | e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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Monica Alexoae, Aurica Rugina, Evelina Moraru and Ileana Ioniuc

ABSTRACT

Hypocondroplasia is an autosomal dominant genetic disease caused by mutations in the receptor 3 of the fibroblast 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.

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