Recognize phenotypes

Question 1

Dx/ intrauterine exposure:

microcephaly, small palpebral fissures, midface hypoplasia, smooth philtrum, thin vermilion border.

Answer 1

FAS (fetal alcohol syndrome)

Question 2

Dx: 
intellectual disability
long/ narrow face
large/protruding ears
macrocephaly
macroorchidism

Answer 2

Fragile X syndrome

Question 3

Dx/ intrauterine exposure:

neonate: hypertonia, tremors
school age; impairment in attention/ language dev/ behav reg

Answer 3

Cocaine exposure

Question 4

Dx/ intrauterine exposure:

congenital heart defects, hearing impairment,
*ocular abn (glaucoma, cataract, retinopathy)

Answer 4

Rubella exposure

Question 5

Dx:

small mouth, prominent forehead, pointy ears
flexed, overlapping fingers
horseshoe kidney, congenital heart defect
*severe intellectual disability
Uncommon survival >1yo

Answer 5

Trisomy 18 (Edward syndrome)

Question 6

Dx:
Epicanthal folds, upslanting palpebral fissures, brachycephaly (back of head symmetrical flattened), flat nasal bridge, protruding tongue
*various degree of intellectual disability.

Answer 6

Trisomy 21 (Down syndrome)