Handbook of Genetic Counseling/Achondroplasia-2
From Wikibooks, the open-content textbooks collection
Achondroplasia
Contents |
[edit] Confirm diagnosis
- Physical features
- disproportionate short stature, shortening of the proximal segment of the limbs, prominent forehead, shallow nasal bridge, flattened midface,
average size trunk, large head relative to the body size
- Radiographs
- contracted base of the skull, square pelvis shape with a small sacrosciatic notch, short pedicles of the vertebrae, rhizomelic (proximal) shortening of the long bones, trident hands, normal length trunk, proximal femoral radiolucency, chevron shape of the distal femoral epiphysis
[edit] Medical evaluation
- Measurements, proportions, and special growth charts
- height arm span and lower segment
- weight
- control eating habits to avoid obesity
- head circumference
- Infantile issues
- airway obstruction
- sleep apnea
- hydrocephalus
- MRI to determine ventricular size
- upper cord compression
- MRI of the foramen magnum
[edit] Orthopedic
- thoracolumbar kyphosis/lumbar lordosis
- truncal weakness
- bowing of the legs
- fibular overgrowth at the knees and ankles
- hip flexion contractures
- lumbosacral spinal stenosis
- orthodontics/crowded teeth
[edit] Neurological
- normal intelligence
- delayed motor milestones
- equal deep tendon reflexes
[edit] Hearing
- otitis media
- conductive hearing loss
- speech evaluation
[edit] Psychosocial assessment
- Family support
- family and friends' reactions
- support groups
- anticipatory guidance/learning from other families
[edit] Long-term planning
- behavior and development
- avoid gymnastics and contact sports
- socialization skills
- adaptation of the home
[edit] occupational therapy consultation
- schooling
- SSI benefits
[edit] Clinical treatments
- Growth hormone studies
- Limb-lengthening procedures
[edit] Notes
The information in this outline was last updated in 2002.
