Achondroplasia — Orthopaedic Issues
Autosomal dominant **FGFR3** mutation → rhizomelic limb shortening with normal trunk, macrocephaly. Neonates risk **foramen magnum stenosis** and central apnea; screen in infancy. Orthopaedic: **thoracolumbar kyphosis**, **genu varum**, and **lumbar spinal stenosis** in adulthood. Management includes posture/physio, guided growth or tibial osteotomy for varus, and decompressive laminectomy when symptomatic stenosis. Discuss limb lengthening carefully—psychosocial and complication considerations.
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1Practised by MCQ
10Which of the following genetic mutations is primarily responsible for achondroplasia?
mcqWhat is the most common skeletal deformity associated with achondroplasia in adults?
mcqWhich of the following is a critical complication that requires surveillance in infants with achondroplasia?
mcqIn achondroplasia, which of the following orthopedic interventions is most appropriate for managing symptomati...
mcqWhat is the primary cause of respiratory compromise in homozygous achondroplasia?
mcqWhich of the following findings is commonly seen in patients with achondroplasia?
mcqWhat is the recommended management for significant genu varum in children with achondroplasia?
mcqWhich of the following screening tests is advised for infants diagnosed with achondroplasia?
mcqWhat psychosocial consideration is important when discussing limb lengthening in achondroplasia?
mcqWhat is the primary goal of treatment with vosoritide in achondroplasia?