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 (FGFR 3 ) found at the p 16 .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
Validation

Diseases presenting "common form" symptom

achondroplasia

alexander disease

benign recurrent intrahepatic cholestasis

cadasil

child syndrome

classical phenylketonuria

cutaneous mastocytosis

erythropoietic protoporphyria

familial mediterranean fever

hereditary cerebral hemorrhage with amyloidosis

hodgkin lymphoma, classical

holt-oram syndrome

homocystinuria without methylmalonic aciduria

oral submucous fibrosis

pendred syndrome

primary hyperoxaluria type 1

severe combined immunodeficiency

thoracic outlet syndrome

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