Module 3

Question 1

What is Osteogenesis Imperfecta?

Answer 1

• Brittle bones
• Bone decomposition
• Inability to form type 1 collagen
• Genetic reason: Autosomal dominant gene

Question 2

What are the three types of Osteogenesis Imperfecta?

Answer 2

• 3 types (severe – less severe)
  * Fetal type
  * Fx occur in utero and during birth
  * Infantile
  * Limb deformities and growth problems
  * Juvenile
  * Dental problems

Question 3

What are the biggest problems with Osteogenesis Imperfecta?

Answer 3

deformities

Question 4

Name 3 types of Neural Tube Disorders.

Answer 4

• Encephalocele
• Anencephaly
• Spina Bifida
• Spina Bifida Occulta
  * Meningocele
  * Myelomeningocele

Question 5

Where do CNS malformations occur?

Answer 5

CNS malformations occur in utero

Question 6

Describe Encephalocele.

Nuero Tube

Answer 6

Encephalocele
2/1,000 births
Deficits: MR, Hydrocephalus, seizures, Motor

Question 7

Describe Anencephaly.

Nuero Tube

Answer 7

Anencephaly
1/400,000
Absence of lg part of brain and skull
Cephalic (head) & neural Tube fail to close

Question 8

Describe Spina Bifida.

Nuero Tube

Answer 8

Spina Bifida
•Defect of vertebral arches and spinal column •Amniocentesis can determine
•Occurs after 4 weeks of dvlpt
•50% cases dependent on family hx and folic acid intake

Question 9

Describe Spina Bifida Occulta

Nuero Tube

Answer 9

Spina Bifida Occulta
Milder form of SB 
Some impairment may be Present 
      * bowel/bladder
      * gait

Question 10

Describe Spina Bifida Cystica (Meningocele-sac)

Nuero Tube

Answer 10

Spina Bifida Cystica
(Meningocele-sac)
Sac containing CSF
Surgical skin closure/removal

Question 11

Describe Spina Bifida with Myelomeningocele

Answer 11

Spina Bifida with Myelomeningocele
Spinal cord protrudes into sac
Impairment below level of lesion

Question 12

What is Arthrogryposis Multiplex Congenita (AMC)?

Answer 12

Rare congenital disorder
Non progressive
1/3,000 births
Contractures of most joints in the body

Question 13

What are the signs and symptoms of Arthrogryposis Multiplex Congenita (AMC)?

Answer 13

• IR of shoulder
• Elbow: extension & pronation
• Fingers: fixed flexion
• Hip: flexion, abd, ER; possible dislocation
• Club foot
• Scoliosis, resp problems, growth retardation

Question 14

What is Cystic Fibrosis (CF)?

Answer 14

Etiology:
defective gene sending signals to brain to produce extra mucus to lung and digestive tract
It is one of the most common type of chronic lung disease in children and may result in early death.
Most children with CF are diagnosed by age 2.