2 documents found, page 1 of 1
The role of Physical and Rehabilitation Medicine in Achondroplasia
Hovenkamp, Carla; Coelho, Alexandra P.; Figueiredo, Pedro; Veiros, Iolanda; Branco, João PauloAchondroplasia is the most common and most researched skeletal dysplasia. It is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, leading to abnormal endochondral ossification which causes multiple anatomical anomalies, the most characteristic being macrocephaly and asymmetrical short stature with proximal shortening of the limbs. The anatomical changes will result in organic and fun...
The Therapeutic Approach to Syndromic Scoliosis: A Case Report
Hovenkamp, Carla; Malta, João; Coelho, Alexandra P.; Azenha, AntónioStructural scoliosis is a deformity of the spine in all anatomical planes. The diagnosis is made when the lateral curvature in the frontal plane (Cobb angle) is equal or greater to 10o. Severe scoliosis can significantly impair the quality of life of these patients, leading to functional impairment, respiratory dysfunction and aesthetic changes with psychosocial impact. The main goal of the treatment is therefo...