Dysmorphology and Teratogens

Question 1

Dysmorphology

Answer 1

medical specialty of evaluating patients with abnormal physical features

Question 2

Diagnosis checklist

Answer 2

• birth/pregnancy history
• developmental/behavioral history
• medical history
• fam history
• thorough physical exam
• lab findings
• recurrent miscarriages/disabilities

Question 3

major anomalies

Answer 3

birth defects that need medical/surgical intervention; cosmetically important

Question 4

minor anomalies

Answer 4

no major surgery needed, cosmetically less important

- features that differ from family, race, or gen pop

Question 5

22q11. 2 deletion syndrome
- 22q11.2 meaning
- anomalies

Answer 5

Q11.2 piece of 22 chromosome is missing

- palate anomaly: nasal voice and cleft palate

Question 6

Birth defects/major anomalies

• definition
• list causes

Answer 6

• condition present at birth which requires medical, surgical, or cosmetic intervention
• chromosome abnormalities (10%)
• multifactorial (23%)
• prenatal teratogen exposure
• uterine
• twinning (higher risk of birth defect)
• unknown causes (43%)

Question 7

malformation

• definition
• way to remember

Answer 7

• poor formation of tissues (primary defect)

- heart defects, most likely to have genetic component,

Question 8

deformation

• definition
• way to remember

Answer 8

• abnormal mechanical forces causing structural abnormalities (secondary defect)
• clubbed feet, overlapping toes, flat head

Question 9

disruption

• definition
• way to remember

Answer 9

• environmental disturbances causing disruption of growth

- cleft palate, no toes

Question 10

dysplasia

• definition
• way to remember

Answer 10

• abnormal organization of cells into tissues

- caved chest, polycystic kidney disease, etc.

Question 11

Syndrome

Answer 11

multiple anomalies pathogenically related due to a genetic factor

Question 12

sequence

Answer 12

cascade from a single known anomaly or mechanical factor

Question 13

field defect

Answer 13

derived from disturbance of a single developmental field

- often midline anomalies

Question 14

association

Answer 14

non-random occurrence of multiple anomalies that cannot be explained by chance alone

• due to unknown factor but can be re-categorized if found
• pathogenically unrelated

Question 15

Pierre robin ______?

• cause
• mnemonic

Answer 15

pierre robin sequence

• micrognathia (undersized jaw) –> glossoptosis (protrusion? of tongue) –> cleft palate
• Pie palate, jaw

Question 16

Potter _____?

• cause
• mnemonic

Answer 16

potter sequence

• lack of fetal urine –> no amniotic fluid –> fetal compression –> pulmonary hypoplasia (not enough lung) –> death
• no pee in the potty

Question 17

OEIS _____?

- abbrev. stands for?

Answer 17

OEIS field defect

• Omphalocele (large protusion outside the cavity of abdomen)
• Extrophy of bladder and rectum
• Imperforate anus
• Spinal defects

Question 18

Holoprosencephaly Spectrum _____?

- characteristics

Answer 18

field defect

- structural anomaly in brain where there is failed/incomplete separation of forebrain

Question 19

VACTERL ____?

- abbrev. stands for?

Answer 19

VACTERL association

• Vertabrate anomalies
• Anal atresia
• Cardiovascular anomalies
• Tracheoesophageal fistula
• Esophageal atresia
• Renal anomalies
• Limb defects

Question 20

Teratogen factors

Answer 20

exposure in pregnancy to

• infection
• certain medications
• drugs
• heavy metals
• external agents
• maternal conditions
• procedures

Question 21

Teratogen Characteristics

Answer 21

• increased frequency of abnormal effect from baseline
• dose response relationship (threshold)
• period of greatest sensitivity differs

Question 22

Thalidomide exposure

• what is it
• what does it cause
• mnemonic

Answer 22

• terratogen
• ## birth defects

Question 23

Fetal Alcohol Syndrome

• features
• mnemonic

Answer 23

• terratogen
• short palpebral fissures
• flat midface
• small nose
• low nasal bridge

Question 24

acutane exposure

Answer 24

• terratogen

- malformations: heart defects, intellectual disability