Genetic and dysmorphic

Question 1

Short stature, poor head growth, developmental delay

Answer 1

fetal alcohol syndrome

Question 2

What are risk factors for Down syndrome?

Answer 2

increased maternal age, especially after 35

Question 3

What is clindodactyly?

Answer 3

curving of the fifth finger, associated with Down Syndrome

Question 4

What feature is common of the foot in down syndrome?

Answer 4

increased space between great toe and second toe

Question 5

What is unique to the hand in down syndrome?

Answer 5

single flexion crease

Question 6

What cancer is 12-20x more common in those with down syndrome?

Answer 6

leukemia

Question 7

Diagnosis rarely made before puberty due to normal pre-pubertal phenotype

Answer 7

Klinefelter syndrome

Question 8

Describe a patient with klinefelter

Answer 8

• absent frontal baldness
• fewer chest hairs
• breast development
• small testicular size
• long arms/legs
• wide hips
• narrow shoulders
• poor beard growth

Question 9

Describe fragile X syndrome

Answer 9

most common cause of cognitive disabilities in males

Question 10

Describe a fragile X patient

Answer 10

elongated face, prominent ears, pectus excavatum, mitral valve prolapse, flat feet, seizures

Question 11

What supplement should be given during pregnancy to prevent spina bifida?

Answer 11

folic acid

Question 12

Who gets duchenne type muscular dystrophy?

Answer 12

boys

Question 13

What is the progression of muscular dystrophy?

Answer 13

non-ambulatory by age 13, death frequently ensues by 20’s because of respiratory and cardiovascular failure

Question 14

What does HEADDSS stand for?

Answer 14

Home environment 
Education 
Activities 
Drugs
Depression
Safety 
Sexuality 
*used for the adolescent interview*