Back of book

Question 1

• Gout
• Intellectual disability
• Self mutilation in boy

Answer 1

Lesch-Nyhan Syndrome (GHPRT def, x-rec)

Question 2

• Situs invertus
• Chronic sinusitis
• bronchiectasis
• Infertility

Answer 2

Kartageners syndrome (dynein arm defect affecting cilia)

Question 3

Elastic skin

hypermobility of joints

increased bleeding tendency

Answer 3

EDS (type V collagen defect, type III defect if vascular subtype)

Question 4

Arachnodactyly

lens subluxation/ dislocation (upward)

aortic dissection

Hyperflexible joints

Answer 4

Marfan syndrome (fibrillin defect)

Question 5

Cafe au lait spots (unilateral)

polyostotic fibrous dysplasia

precocious puberty

multiple endocrine abnormalities

Answer 5

McCune-Albright syndrome (Gs protein activating mutation)

Question 6

Calf pseudohypertrophy

Answer 6

Muscular dystrophy (most commonly Duchenne, d/t X-rec frameshift mutation of dystrophin gene)

Question 7

Child uses arm to stand up from squat

Answer 7

Duchenne Muscular Dystrophy (Gowers sign)

Question 8

Slow, progressive muscle weakness in boys

Answer 8

Becker muscular dystrophy (X-lined non-frameshift deletions in dystrophin; less severe than Duchenne)

Question 9

Inflant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

Answer 9

Patau syndrome (trisomy 13)

Question 10

Infant with microcephaly, rocker-bottom feet, clenchedhands, structural heart defect

Answer 10

Edwards (trisomy 18)

Question 11

Single palmar crease

Answer 11

Down syndrome

Question 12

Dilated cardiomyopathy

Edema

alcoholism or malnutrition

Answer 12

Wet beriberi (thiamine/B1 deficiency)

Question 13

Dermatitis

Dimentia

Diarrhea

Answer 13

Pellagea (Niacin/B3 deficiency)

Question 14

Swollen gums

mucosal bleeding

poor wound healing

petechiae

Answer 14

Scurvy (vit C deficiency: can’t hydroxylate proline/lysine for collagen synth)

Question 15

Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria

Answer 15

McArdle disease (skeletal muscleglycogen phosphorylase deficiency)

Question 16

Infant with hypoglycemia, hepatomegaly

Answer 16

Cori disease (debranching enzyme deficiency) or

Von Gierke disease (Glucose-6-phosphatase deficiency, more severe)

Question 17

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

Answer 17

Pompe disease (lysosomal alpha-1,4-glucosidase deficiency)

Question 18

“Cherry-red spots” on macula

Answer 18

Tay-Sachs (ganglioside accumulation) or

Niemann-Pick (sphingomyelin accumulation)

Central retinal artery occulsion

Question 19

Hepatosplenomegaly

Pancytopenia

Osteoporosis

Avasculat necrosis of femoral head

Bone crises

Answer 19

Gaucher disease (glucocerebrosidase deficiency)

Question 20

Achilles tendon xanthoma

Answer 20

Familial hypercholesterolemia (decreased LDL receptorsignaling)

Question 21

Anaphylaxis following blood transfusion

Answer 21

IgA deficiency

Question 22

Male child

Recurrent infections

no mature B cells

Answer 22

Bruton disease (X-linked agammaglobinemia)