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Flashcards in Dysmorphology Deck (17):
1

Dysmorphology

deals with PEOPLE who have congenital abnormalities and with their families

2

Classification of observable differences

- major anomalies
- minor anomalies
- normal variations

3

Major malformations

- abnormality resulting from an inborn error of tissue formation
- an anatomic feature that is of serious medical and/or cosmetic consequence

4

Minor anomaly

- minor variations of morphological features with no known medical, surgical, or cosmetic significance
- may be observed in

5

Anomalies

- Deformation (s)
- Disruption
- Malformations
- Sequence

6

Deformations

- An abnormal mechanical force which distorts an otherwise normal structure
- Secondary to Malformation
- Ex: Plagiocephaly and club feet

7

Disruption

- Abnormal structure of an organ or tissue as a result of external factors disturbing the normal developmental process: includes ischemia, infection, or trauma
- Amniotic band syndrome
- tissue damage
- breakdown of normal structures

8

Dysplasia

- Abnormal organization of cells into tissue in all parts of the body in which that particular tissue is present
- Often present at birth
- osteochondrodysplasia
- Ectodermal
- Skeletal dysplasia
- Hamartosis

9

Syndromes

- Consistent patterns of abnormalities for which there will often be a known underlying cause
- Down syndrome
- Treacher Collins syndrome
- Amniotic band syndrome

10

Sequence

- Consequence of a cascade of events initiated by a single primary factor
- Potter sequence

11

Association

- Malformations tend to occur together but cannot be explained on the basis of a sequence or a syndrome
- VATER association
- VATERR
- VATERS
- VACTERL (all 4 of these are the same thing)
- CHARGE

12

CHARGE

- C:Coloboma
- H:Heart
- C:Choanal atresia
- R: Growth Retardation
- G: Genital abnormalities
- E: Ear abnormalities

13

Developmental delay

- minimal physical findings
- normal physical exam
- 5 to 25% of children have genetic causes

14

Pedigree analysis

- ethnicity
- cancer
- genetic conditions
- exposures
- pregnancy loss
- birth defects
- intellectual disability
- age
- medical conditions

15

Allelic heterogeneity

- Different mutations in the same gene may result in the same phenotype
- Different mutations in the same gene results in different phenotype also known as phenotypic heterogeneity

16

Would genetic testing HELP my patient?

- reduces morbidity and mortality through close surveillance of high-risk individuals
- eliminates need for extra surveillance in individuals with no increased risk
- confirms clinical diagnosis
- estimates recurrence risks

17

Malformation

Development is intrinsically abnormal
-ex// polydactyly/syndactyly