Congenital 2

Question 1

Holoprosencephaly is a

Answer 1

Malformation sequence

Question 2

Incomplete cleavage of _____________ > holoprosencephaly, synopthalmia (ocular hypotelorism)

Answer 2

Prosencephalon

Question 3

Fault ____ development > proboscis, cleft lip, and absent mid facial or anterior cranial base bones

Answer 3

Bifacial

Question 4

Micrognathia > abnormal tongue position > U-shaped cleft palate > possible airway obstruction

Answer 4

Robin sequence

Question 5

Renal agenesis and amniotic leak can cause

Answer 5

Oligohydramnios

Question 6

______________ can cause pulmonary hypoplasia, amnion nodosum, and fetal compression

Answer 6

Oligohydramnios

Question 7

Combination of anomalies which frequently occur together

Answer 7

Association

Question 8

Coloboma of eye, heart defects, atresia of choanne, retardation of growth/development, genital anomalies, and ear anomalies

Answer 8

CHARGE association

Question 9

CHARGE association

Answer 9

Coloboma of eye, heart defects, atresia of choanne, retardation of growth/development, genital anomalies, and ear anomalies

Question 10

Müllerian duct, renal and cervical vertebral defects

Answer 10

MURCS

Question 11

MURCS

Answer 11

Müllerian duct, renal and cervical vertebral defects

Question 12

Vertebral defects, imperforate anus, TE fistula, renal or radial Ray defects

Answer 12

VATER

Question 13

VATER

Answer 13

Vertebral defects, imperforate anus, TE fistula, renal or radial Ray defects

Question 14

Anomalies of several different structures that lie in the same body region during embryogenesis

Answer 14

Complex

Question 15

Omphalocele, exstrophy, imperforate anus, spinal defects

Answer 15

OEIS complex

Question 16

OEIS complex

Answer 16

Omphalocele, exstrophy, imperforate anus, spinal defects

Question 17

Multiple structural defects in one or more tissues due to a chromosomal, genetic, teratogenic, or unknown insult that impairs multiple tissues

Answer 17

Syndrome

Question 18

Short stature, MR, limb defects, characteristic facies

Answer 18

Cornealia de Lange Syndrome

Question 19

Caused by mutations in NIPBL

Answer 19

Cornelia de Lange Syndrome

Question 20

Cascade of effects stemming from a single localized abnormality early in morphogenesis. Could be malformation, disruption, or deformation

Answer 20

Sequence

Question 21

Defects in eyes, lungs, cardiovascular and genitourinary systems

Answer 21

Vitamin A deficiency

Question 22

Craniofacial malformations, congenital heart disease, thymic ectopia/hypoplasia/aplasia, CNS malformations, limb anomalies

Answer 22

Retinoic acid embryopathy

Question 23

Microtia/anotia

Answer 23

Small, absent ears

Question 24

Midline hemangioma, flat nasal bridge, phocomelia (limb defects)

Answer 24

Thalidomide embryopathy