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.
Which of the following genetic mutations is primarily responsible for achondroplasia?
What is the most common skeletal deformity associated with achondroplasia in adults?
Which of the following is a critical complication that requires surveillance in infants with achondroplasia?
In achondroplasia, which of the following orthopedic interventions is most appropriate for managing symptomatic lumbar spinal stenosis?
What is the primary cause of respiratory compromise in homozygous achondroplasia?
Which of the following findings is commonly seen in patients with achondroplasia?
What is the recommended management for significant genu varum in children with achondroplasia?
Which of the following screening tests is advised for infants diagnosed with achondroplasia?
What psychosocial consideration is important when discussing limb lengthening in achondroplasia?
What is the primary goal of treatment with vosoritide in achondroplasia?
