Dysmorphology and Teratogens Flashcards Preview

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Flashcards in Dysmorphology and Teratogens Deck (24):
1

Dysmorphology

medical specialty of evaluating patients with abnormal physical features

2

Diagnosis checklist

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

3

major anomalies

birth defects that need medical/surgical intervention; cosmetically important

4

minor anomalies

no major surgery needed, cosmetically less important
- features that differ from family, race, or gen pop

5

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

Q11.2 piece of 22 chromosome is missing
- palate anomaly: nasal voice and cleft palate

6

Birth defects/major anomalies
- definition
- list causes

- 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%)

7

malformation
- definition
- way to remember

- poor formation of tissues (primary defect)
- heart defects, most likely to have genetic component,

8

deformation
- definition
- way to remember

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

9

disruption
- definition
- way to remember

- environmental disturbances causing disruption of growth
- cleft palate, no toes

10

dysplasia
- definition
- way to remember

- abnormal organization of cells into tissues
- caved chest, polycystic kidney disease, etc.

11

Syndrome

multiple anomalies pathogenically related due to a genetic factor

12

sequence

cascade from a single known anomaly or mechanical factor

13

field defect

derived from disturbance of a single developmental field
- often midline anomalies

14

association

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

15

Pierre robin ______?
- cause
- mnemonic

pierre robin sequence
- micrognathia (undersized jaw) --> glossoptosis (protrusion? of tongue) --> cleft palate
- Pie palate, jaw

16

Potter _____?
- cause
- mnemonic

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

17

OEIS _____?
- abbrev. stands for?

OEIS field defect
- Omphalocele (large protusion outside the cavity of abdomen)
- Extrophy of bladder and rectum
- Imperforate anus
- Spinal defects

18

Holoprosencephaly Spectrum _____?
- characteristics

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

19

VACTERL ____?
- abbrev. stands for?

VACTERL association
- Vertabrate anomalies
- Anal atresia
- Cardiovascular anomalies
- Tracheoesophageal fistula
- Esophageal atresia
- Renal anomalies
- Limb defects

20

Teratogen factors

exposure in pregnancy to
- infection
- certain medications
- drugs
- heavy metals
- external agents
- maternal conditions
- procedures

21

Teratogen Characteristics

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

22

Thalidomide exposure
- what is it
- what does it cause
- mnemonic

- terratogen
- birth defects
-

23

Fetal Alcohol Syndrome
- features
- mnemonic

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

24

acutane exposure

- terratogen
- malformations: heart defects, intellectual disability