Tip
Think of Tyrion!
Epidemiology
- Most common type of skeletal dysplasia
- Most common cause of disproportionate short stature
Etiology
- Gain of function mutation in fibroblast growth factor receptor 3 gene (FGFR3) on chromosome 4
Pathophysiology
Clinical features
- Stature
- Disproportionate short stature
- Normal-sized torso
- Short, plump extremities
- Craniofacial abnormalities
- Middle ear deformation: recurrent otitis media
- Other skeletal abnormalities
- Small foramen magnum: compression of the cervical medulla
- Lumbar lordosis and kyphoscoliosis
- Spinal canal stenosis: lower back and leg pain, paresthesias, dysesthesia, incontinence
Diagnostics
Treatment
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