Genetic/Inherited/Congenital Syndromes

Question 1

Crouzon Syndrome

Answer 1

• brachycephaly (bilateral closure of the coronal sutures)
• proptosis
• midface hypoplasia
• normal intelligence

Question 2

Apert Syndrome

Answer 2

premature closure of multiple sutures

syndactyly of hands and feet

Question 3

Rett Syndrome

Answer 3

MeCP2 gene, primarily females
regressive course
deceleration of head growth at 2-4 months
hand-wringing, loss of language milestones
Death in adolescence, early adulthood

Question 4

Binge Drinking Pediatric Definitions

Answer 4

4 drinks in 2 hours

Question 5

Marijuana Use Physical Exam findings

Answer 5

conjunctival injection!

elevated BP, tachycardia

Question 6

Inhalant Use Exam Findings/Consequences

Answer 6

perioral eczematous changes
hypotension, cutaneous flushing
inverted t waves, ST depression

Question 7

LSD symptoms

Answer 7

somatic symptoms- dizziness, flushing, temp changes
changes in vision and hearing,
delusions, psychosis

Question 8

PCP symtpoms

Answer 8

cramps, diarrhea, hematemesis
euphoria, nystagmus, ataxia, hallucinatins
verbally abusive lanuage w/ psychosis