Achondroplasia

Skeletal dysplasia occurring (usually) due to spontaneous mutation of fibroblast growth factor, leading to premature ossification of epiphyseal growth plates and growth restriction. Affects include:

Airway and spine deformities
Variably affected organ function
Normal intelligence and life expectancy

Epidemiology and Risk Factors

Achondroplasia is the most common cause of dwarfism, with an incidence of ~1/10:000 live births

Pathophysiology

Aetiology

Clinical Manifestations

Diagnostic Approach and DDx

Investigations

Management

Medical

Surgical

Anaesthetic Considerations

A
- AFOI is the preferred method of intubation
- May be difficult mask ventilation and intubation
  - Narrowed nasal passages
  - Tracheal stenosis
  - Maxillary hypoplasia
  - Pharyngeal and laryngeal thickening
  - Short neck
  - Stiff TMJ
- C-spine at risk
  Avoid hyperextension due to:
  - Foramen magnum stenosis
  - Cervical instability
B
- Central sleep apnoea
  Medullary compression.
- Restrictive lung disease
C
- Pulmonary hypertension secondary to lung disease
D
- Anxiety
- Spinal cord abnormalities
  - Kyphoscoliosis
  - Spinal canal stenosis
  - Engorged epidural veins
- Neuraxial anaesthesia difficult and relatively contraindicated
  - ↑ incidence of epidural failure, including:
    - Unrecognised dural puncture
      Due to absence of CSF flow from stenosed canal.
    - Difficult to feed catheters
    - Patchy block
E
- Difficult IV access
- Significantly ↑ obesity rate

Obstetric Considerations

Major issues:

Restrictive lung disease
High rate of elective caesarian section
Due to rate of cephalopelvic disproportion.