Rare Diseases Symptoms Automatic Extraction

Small is challenging; distal femur fracture management in an elderly lady with achondroplastic dwarfism.

[achondroplasia]

Achondroplasia is an autosomal dominant dwarfing condition that represents the most common form of skeletal dysplasia. The disease is caused by a mutation in the gene encoding fibroblast growth factor receptor 3 (FGFR3) found at the p16.3 locus on chromosome 4 which results in severe inhibition of subchondral bone growth. Anatomic variations, including articular and periarticular deformities classically seen with this condition, amplify the complexity of fracture fixation. Blood volume loss, age-related bone fragility, component selection and positioning pose serious orthopaedic challenges. Concomitant cardiovascular, respiratory and neurological comorbidities pose additional high-risk perioperative considerations. Despite an estimated prevalence of 1:25 000 in the general population, there is little literature concerning the operative and postoperative treatment challenges faced by orthopaedic surgeons dealing with fracture management on a patient with this condition. We present a case of an intercondylar femoral fracture in an elderly achondroplastic lady successfully treated with percutaneous screw fixation.

Diseases presenting "skeletal dysplasia" symptom

  • achondroplasia
  • aromatase deficiency
  • cohen syndrome
  • dentinogenesis imperfecta
  • gm1 gangliosidosis
  • oligodontia

This symptom has already been validated