Dysmorphology

Question 1

Dysmorphology

Answer 1

deals with PEOPLE who have congenital abnormalities and with their families

Question 2

Classification of observable differences

Answer 2

• major anomalies
• minor anomalies
• normal variations

Question 3

Major malformations

Answer 3

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

Question 4

Minor anomaly

Answer 4

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

Question 5

Anomalies

Answer 5

• Deformation (s)
• Disruption
• Malformations
• Sequence

Question 6

Deformations

Answer 6

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

Question 7

Disruption

Answer 7

• 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

Question 8

Dysplasia

Answer 8

• 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

Question 9

Syndromes

Answer 9

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

Question 10

Sequence

Answer 10

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

Question 11

Association

Answer 11

• 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

Question 12

CHARGE

Answer 12

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

Question 13

Developmental delay

Answer 13

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

Question 14

Pedigree analysis

Answer 14

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

Question 15

Allelic heterogeneity

Answer 15

• 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

Question 16

Would genetic testing HELP my patient?

Answer 16

• 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

Question 17

Malformation

Answer 17

Development is intrinsically abnormal

-ex// polydactyly/syndactyly