Genetics

Question 1

______________ is a less severe manifestation of achondroplasia.

Answer 1

Hypochondroplasia

It also involves FGFR3 but is a different mutation.

Question 2

What neonatal workup is involved for babies with achondroplasia/hypochondroplasia?

Answer 2

None

Of note, they also are allowed increased head circumference.

Question 3

____________ presents with conjugated hyperbilirubinemia, hypertelorism, and pulmonic stenosis.

Answer 3

Alagille syndrome

Question 4

What syndrome presents with pulmonic stenosis?

Answer 4

Noonan syndrome

Question 5

A man has an x-linked disease. His daughters have what percent chance of being a carrier?

Answer 5

100%

Question 6

What disorder presents with short stature, developmental delay, and isolated thrombocytopenia?

Answer 6

Fanconi anemia

Question 7

What genetic disorder can cause chronic metabolic alkalosis?

Answer 7

CF

Loss of chloride in the GI tract causes compensatory increase in the resorption of HCO3.

Question 8

How do urea cycle disorders present?

Answer 8

Children with urea cycle deficits cannot clear ammonia. As soon as they are born they begin to accumulate ammonia (from the breakdown of protein in formula and breastmilk). They will become obtunded, hypothermic, and vomit within a few days of life.