Dysmorphology Flashcards
1
Q
Dysmorphology
A
deals with PEOPLE who have congenital abnormalities and with their families
2
Q
Classification of observable differences
A
- major anomalies
- minor anomalies
- normal variations
3
Q
Major malformations
A
- abnormality resulting from an inborn error of tissue formation
- an anatomic feature that is of serious medical and/or cosmetic consequence
4
Q
Minor anomaly
A
- minor variations of morphological features with no known medical, surgical, or cosmetic significance
- may be observed in
5
Q
Anomalies
A
- Deformation (s)
- Disruption
- Malformations
- Sequence
6
Q
Deformations
A
- An abnormal mechanical force which distorts an otherwise normal structure
- Secondary to Malformation
- Ex: Plagiocephaly and club feet
7
Q
Disruption
A
- 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
Q
Dysplasia
A
- 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
Q
Syndromes
A
- Consistent patterns of abnormalities for which there will often be a known underlying cause
- Down syndrome
- Treacher Collins syndrome
- Amniotic band syndrome
10
Q
Sequence
A
- Consequence of a cascade of events initiated by a single primary factor
- Potter sequence
11
Q
Association
A
- 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
Q
CHARGE
A
- C:Coloboma
- H:Heart
- C:Choanal atresia
- R: Growth Retardation
- G: Genital abnormalities
- E: Ear abnormalities
13
Q
Developmental delay
A
- minimal physical findings
- normal physical exam
- 5 to 25% of children have genetic causes
14
Q
Pedigree analysis
A
- ethnicity
- cancer
- genetic conditions
- exposures
- pregnancy loss
- birth defects
- intellectual disability
- age
- medical conditions
15
Q
Allelic heterogeneity
A
- 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
