Epiphyseal Plate Disorders

Question 1

___________ - is decreased thyroid hormone production in a newborn.

Answer 1

Neonatal hypothyroidism

Question 2

Cretinism is also known as:

Answer 2

Neonatal hypothyroidism

Question 3

What is the cause of cretinism?

Answer 3

Incomplete development of the thyroid is the most common defect and occurs in about 1 out of every 3,000 births. Girls are affected twice as often than boys

Question 4

Symptoms of Cretinism. Except:

1. Mild cases may have little to no symptoms
2. Severe cases exhibit: Puffy-appearing face
3. Dull look
4. Protuding eyes (exopthalmus)
5. Thick, protruding tongue
6. Slow mental and physical development

Answer 4

Except: 4

Question 5

What is the treatment for Cretinism?

Answer 5

Treated with thyroid hormone supplementation. If started within the first month, the child is not considered a cretin but is normal, and grows into a normal adult.

Question 6

____________ - is a disorder of bone growth that causes the most common type of dwarfism.

Answer 6

Achondroplasia

Question 7

Achondroplasia is also known as:

Answer 7

Achondroplastic dwarfism or disproportionate dwarfism

Question 8

What are the causes of Achondroplasia?

Answer 8

• autosomal dominant trait
• Mutations - most common cause
• change in the DNA for fibroblast growth factor receptor 3

Question 9

Manifestations of Achondroplasia. Except:

1. Bowed legs
2. Arms hanging forward to the trunk and forward head position
3. Disproportionately large head-to-body size difference
4. Prominent forehead (frontal bossing)
5. Short stature [significantly below the average height for a person of the same age]
6. Spinal stenosis
7. Spine curvatures called kyphosis and lordosis

Answer 9

Except: 2

Other manifestations are:

• Abnormal hand appearance with persistent space between the long and ring fingers
• Decreased muscle tone
• Shortened arms and legs (especially the upper arm and thigh)
• Disproportionately large head-to-body size difference

Question 10

True or False:

There is no specific treatment for achondroplasia. Related abnormalities, including spinal stenosis and spinal cord compression, should be treated when they cause problems.

Answer 10

True

Question 11

What are the treatment of Achondroplasia?

Answer 11

• Surgery to correct spinal curves
• Limb-lengthening surgeries may be used but are complicated and uncommon