First Aid Classical Presentations

Question 1

Gout, intellectual disability, self-mutilating behavior in a

boy

Answer 1

Lesch-Nyhan syndrome (HGPRT deficiency, X-linked

recessive)

Question 2

Situs inversus, chronic sinusitis, bronchiectasis, infertility

Answer 2

Kartagener syndrome (dynein arm defect affecting cilia)

Question 3

Blue sclera

Answer 3

Osteogenesis imperfecta (type I collagen defect)

Question 4

Elastic skin, hypermobility of joints, bleeding tendency

Answer 4

Ehlers-Danlos syndrome (type V collagen defect, type III

collagen defect seen in vascular subtype of ED)

Question 5

Arachnodactyly, lens dislocation (upward and temporal),

aortic dissection, hyperflexible joints

Answer 5

Marfan syndrome (fibrillin defect)

Question 6

Café-au-lait spots (unilateral), polyostotic fibrous
dysplasia, precocious puberty, multiple endocrine
abnormalities

Answer 6

McCune-Albright syndrome (Gs

-protein activating

mutation)

Question 7

Calf pseudohypertrophy

Answer 7

Muscular dystrophy (most commonly Duchenne, due to
X-linked recessive frameshift mutation of dystrophin
gene)

Question 8

Child uses arms to stand up from squat

Answer 8

Duchenne muscular dystrophy (Gowers sign)

Question 9

Slow, progressive muscle weakness in boys

Answer 9

Becker muscular dystrophy (X-linked non-frameshift

deletions in dystrophin; less severe than Duchenne)

Question 10

Infant with cleft lip/palate, microcephaly or

holoprosencephaly, polydactyly, cutis aplasia

Answer 10

Patau syndrome (trisomy 13)

Question 11

Infant with microcephaly, rocker-bottom feet, clenched

hands, and structural heart defect

Answer 11

Edwards syndrome (trisomy 18)

Question 12

Single palmar crease

Answer 12

Down syndrome

Question 13

Dilated cardiomyopathy, edema, alcoholism or

malnutrition

Answer 13

Wet beriberi (thiamine [vitamin B1

] deficiency)