Wikia

Psychology Wiki

Genetic counseling: Achondroplasia-2

Talk0
34,142pages on
this wiki
Revision as of 17:21, March 11, 2006 by Lifeartist (Talk | contribs)

(diff) ← Older revision | Latest revision (diff) | Newer revision → (diff)

Assessment | Biopsychology | Comparative | Cognitive | Developmental | Language | Individual differences | Personality | Philosophy | Social |
Methods | Statistics | Clinical | Educational | Industrial | Professional items | World psychology |

Clinical: Approaches · Group therapy · Techniques · Types of problem · Areas of specialism · Taxonomies · Therapeutic issues · Modes of delivery · Model translation project · Personal experiences ·


Achondroplasia

Confirm diagnosisEdit

  • 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

Medical evaluationEdit

  • 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

OrthopedicEdit

  • 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

NeurologicalEdit

  • normal intelligence
  • delayed motor milestones
  • equal deep tendon reflexes

HearingEdit

  • otitis media
    • conductive hearing loss
  • speech evaluation

Psychosocial assessmentEdit

  • Family support
    • family and friends' reactions
    • support groups
  • anticipatory guidance/learning from other families

Long-term planningEdit

  • behavior and development
    • avoid gymnastics and contact sports
  • socialization skills
  • adaptation of the home

occupational therapy consultationEdit

  • schooling
  • SSI benefits

Clinical treatmentsEdit

  • Growth hormone studies
  • Limb-lengthening procedures

NotesEdit

The information in this outline was last updated in 2002.


Material obtained under GFDL Licence from http://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling

Heckert GNU white Permission is granted to copy, distribute and/or modify this document under the terms of the GNU Free Documentation License, Version 1.2 or any later version published by the Free Software Foundation; with no Invariant Sections, no Front-Cover Texts, and no Back-Cover Texts. A copy of the license is included in the section entitled "GNU Free Documentation License."

Around Wikia's network

Random Wiki