Bone Abstracts

Background: Achondroplasia is a genetic disorder wich affects bone growth leading to short stature. It occurs in 1 of every 25 000 live births and it is characteristized by short extremities, hyperlordosis, small hands and macrocephaly, with high forehead and saddle nose. Neurologic complications are due to narrowing of the vertebral foramen. Is transmitted as autosomal dominant and it is due to mutations of the FGFR3 gene witch codifies the fibroblastic receptor of GH expressed in provisional cartilage.

Presenting problem: Female with 15 years old with achondroplasia, hypothyroidism, short stature, dolichocephaliy, dental anormalities, shortering of the inferior segment, bilateral genu varus, forearm varus, and trident sign of both hands.

Clinical management: Patient was treated with sodium levotiroxine and GH at 0.85 mg/kg per week from age 4 until age fourteen. Heigth increased by 54.5 cm, from 83 to 137.5 cm with treatement, an elongation of lower extremities with ILISAROF was performed and height increased by 21.5 cm in 2 years.

Discussion: Bone elongation combined with GH therapy produced better result in height than GH alone.