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Key Features

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  • Most common form of short-limbed dwarfism

  • Upper arms and thighs are proportionately shorter than the forearms and legs

  • Skeletal dysplasia is suspected based on abnormal stature, disproportion, dysmorphism, or deformity

  • Measurement of height is an excellent clinical screening tool

  • While this disorder has an autosomal dominant transmission pattern, 80% of cases result from a random mutation in the fibroblast growth factor receptor-3 (FGFR3) gene

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Clinical Findings

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  • Bowing of the extremities

  • Waddling gait

  • Limitation of motion of major joints

  • Relaxation of the ligaments

  • Short stubby fingers of almost equal length

  • Frontal bossing

  • Midface hypoplasia

  • Otolaryngeal system dysfunction

  • Moderate hydrocephalus

  • Depressed nasal bridge

  • Lumbar lordosis

  • Intelligence and sexual function are normal

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Diagnosis

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  • Radiographs demonstrate short, thick tubular bones and irregular epiphysial plates

  • Ends of the bones are thick, with broadening and cupping

  • Epiphysial ossification may be delayed

  • Due to diminished growth in the spinal pedicles, the spinal canal is narrowed (congenital stenosis)

  • Herniated disk in adulthood may lead to acute paraplegia

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Treatment

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  • Growth hormone is given to some children with bone dysplasia

  • Limb lengthening is possible to achieve a more normal proportion of extremities but is controversial

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