Dysmorphology, anomalies and teratogens

Question 1

clinical geneticists

Answer 1

interpret genetic information and give diagnoses

-involved in diagnosis, councelling, and care of individuals and families

Question 2

what circumstances to consult a geneticist

Answer 2

• prenatal testing abnormalities
• birth defects
• child or adult with unusual appearance
• family history of genetic disorders
• infertility or recurrent miscarriage
• early onset of cancer/ fam history

Question 3

why diagnose

Answer 3

-defines problem
-prognosis
-explains why this happened
-genetic counselling of family
recurrence risk

Question 4

birth defect

Answer 4

condition present at birth which requires medical, surgical, or cosmetic intervention
-3% of children at birth, 4% by age 1 (some are hard to see)

Question 5

concurrence of major and minor anomalies

Answer 5

the more minor anomalies you have, the more likely it is to have a major one causing them

Question 6

what constitutes a clinical dysmorphology

Answer 6

• found in small population
• features occur more commonly in genetic syndromes
• three or more dysmorphologies

Question 7

making a diagnosis

Answer 7

history
physical exam
-prenatal/postnatal
-association/sequence
lab/radiology

Question 8

history

Answer 8

postnatal: development and behavior, medical-organ systems
- family: developomental delay, birth defects, genetic conditions, ethnic background, consanguinity
- prenatal: prior obstetric history, patients pregnancy info
- perinatal: labor and delivery, hospital course, home course

Question 9

physical exam

Answer 9

weight/growth curves

• eye positioning
• ear heigth/angle

Question 10

malformation

Answer 10

• the baby was born with a defect

- cleft lip

Question 11

deformation

Answer 11

baby was born/grew normally but then somewhere in life there was a physical force (traumatic event) that changed the physical characteristics of that person
-club foot

Question 12

disruption

Answer 12

born normal and there wsa some kind of biological disruption that happened along the way, leading to a physical change
-amniotic band syndrome

Question 13

dysplasia

Answer 13

abnormal cellular organization or function in certain tissue types leading to clinically apparent structural changes

Question 14

syndrome

Answer 14

a recognizable pattern of reccurent multiple anomalies

• downs
• progeria

Question 15

association

Answer 15

a pattern of anomalies that happen together frequently, without a known, underlying cause

Question 16

sequence

Answer 16

a pattern of multiple anomalies derived from a single known or presumed prior anomaly or mechanical factor

Question 17

pierre robin sequence

Answer 17

in utero, the chin is very small and the tongue prevents clocure of the soft palate
-after birth the small chin causes the tongue to fall back and obstruct the airway

Question 18

potter syndrome

Answer 18

• in utero, lack of fetal urination caused by absent or nonfunctional kidneys or blockage of urine outlet
• leads to anhydramnios which leads to fetal compression and pulmonary hypoplasia resulting in neonatal death

Question 19

etiology of intellectual disability

Answer 19

• multiple congenital malformations
• metabolic
• isolated intellectual disability
• cerebral palsy/seizures
• central nervouse system lesion
• environmental

Question 20

teratogens

Answer 20

• substances encountered during pregnancy that could lead to birth defects
• could be: infectious, medications, drugs, external agents (radiation), maternal disorders
• effect on the fetus is highly dependant on the gestational age at time of exposure and dose

Question 21

fetal alcohol syndrome characteristics

Answer 21

• epicanthal folds
• small eye openings
• flat midface
• upturned nose
• smooth philtrum
• thin upper lip

Question 22

most birth defects are from

Answer 22

unknown causes

Question 23

originating factors of :

• syndromes
• sequences
• association

Answer 23

syndrome: gentic
sequence: mechanical factor
association: unknown