Embryo

Question 1

Defect in fusion of prechordal mesoderm

Answer 1

Patau, trisomy 13

Midline defects : holoprocencephaly, microcephaly, micropthalmia, cleft lip/palate, omphalocele

2° meiotic non-dysjunction

Question 2

Duodenal atresia

Hirschprung associated w which congenital diseases

Answer 2

Down

Question 3

Meckel’s diverticulitis + malrotation associated with which congenial syndrome

Answer 3

Edward

Question 4

Omphalocele, cleft lip/ palate ass. w which congenital syndrome

Answer 4

Patau

Question 5

Placenta previa + abruption ass with

Answer 5

Maternal nicotine use

Question 6

Cleft lip/palate w/out omphalocele ass. w ?

Answer 6

Phenytoin

Question 7

Hearing loss, cardiac defects + cataract in new born d/t ?

Answer 7

Congenital rubella

Question 8

Elfin faces + aortic stenosis + extrovert personality

Answer 8

Williams syndrome

Question 9

Small mandible, post displaced tongue, U-shaped cleft palate w difficulty breathing

Answer 9

Pierre Robin sequence

1° defect: mantle hypoplasia leads to other abn

Breathing improves when prone

Question 10

Association

Answer 10

Collection of malformation w/out any common cause

VACTERL
Vertebral anomalies
Anal atresia
Cardiac defects
TracheoEsophageal fistula
Renal abn
Limb abn

Question 11

Disruption

Answer 11

External insult interrupts normal fetal dev

Amniotic band syndrome

Question 12

Hypogonadism + hypotonia (poor suckling) + inc BMI seen w?

Answer 12

Prayer-Willi