Skeletal Dysplasias
A 6-month-old infant is referred for evaluation. The parents note a large head and short limbs. On examination, there is frontal bossing, a depressed nasal bridge, rhizomelic (proximal) limb shortening, and trident hands. The infant has hypotonia and episodes of apnea during sleep. Genetic testing confirms an FGFR3 mutation. Regarding achondroplasia:
Mark each as TRUE or FALSE
Achondroplasia is the most common skeletal dysplasia (1:20,000 births) caused by a gain-of-function ...
Foramen magnum stenosis is the most dangerous complication in infancy causing cervicomedullary compr...
Thoracolumbar kyphosis in infancy always requires surgical intervention; lumbar spinal stenosis is r...
Lumbar spinal stenosis occurs in 20-30% of adults with achondroplasia due to short pedicles and decr...
Genu varum is the most common limb deformity requiring correction in 10-20% of patients; internal ti...
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Click T (True) or F (False) for each option