Dysmorphology

Question 1

major vs minor anomalies

Answer 1

major: have adverse effects on functions or social acceptability of individual
minor: variations of normal, non-impairing

Question 2

t/f 0.8% of babies with 2 minor defects have 5x more major defects

Answer 2

true

Question 3

t/f babies with 2 or more minor anomalies had a major defect frequency of 90%

Answer 3

false, 3 or more

Question 4

any infant with ___ anomalies should be evaluated for major malformation

Answer 4

3 or more minor anomalies

Question 5

hair whorls represent a lot about __ formation

Answer 5

brain

Question 6

what is pierre robin syndrome/sequence

Answer 6

micrognathia, glossoptosis, and u shaped cleft palate

Question 7

initiating event in pierre robin syndrome

Answer 7

lower jaw did not grow properly by 9 wks aog -> glossoptosis -> tongue obstructs palatal fusion -> u shaped palate

Question 8

types of structural defects

Answer 8

malformation: single localized poor formation of tissue with chain of defects
deformation: mechanical forces cause altered morphogenesis
disruption: normal fetus + destructive problems
dysplasia: lack of organization of cells

Question 9

example of malformation sequence

Answer 9

conjoined twins

Question 10

example of deformation sequence

Answer 10

club foot or prolonged breech

Question 11

example of disruption sequence

Answer 11

amniotic band sequence

- entangling body part -> swelling -> amputation

Question 12

example of dysplasia sequence

Answer 12

achondroplasia

- cartilage of long bones of arms and legs cant change to bone = abnormally sized skeleton

Question 13

patterns of abnormality

Answer 13

sequence: pattern of multiple anomalies from a single known cause
syndrome: pattern whose combination sets it apart from others, common etiology
association: non-random but seen together more frequently

Question 14

example of a sequence

Answer 14

potter sequence: renal agenesis at 16 aog -> no amniotic fluid -> potter facies -> pulmonary hypoplasia and dysmorphic features

Question 15

example of syndrome

Answer 15

fragile x syndrome: most common form of inherited intellectual disability

due to fmr gene for brain

Question 16

example of association

Answer 16

VACTERL association

vertebral anomalies
anal atresia
cardiovascular anomalies
tracheoesophageal fistula
esophageal atresia
renal / radial anomalies
limb defects

Question 17

general principles in dysmorphology

Answer 17

• nonspecificity of individual defects
• variance in expression
• heterogeneity

Question 18

commonly encountered conditions in the philippines

Answer 18

down syndrome
metabolic disorders
developmental delay
multiple congenital anomalies
digestive system
cardio system
nervous system
genital organ anomalies

Question 19

approach to a dysmorphic child

Answer 19

1: suspicion
2: gather data (hx)
3: do PE + dysmorphology checklist
4: analyze and diagnose

Question 20

indications for chromosomal array

Answer 20

multiple congenital anomalies
ambiguous genitalia
developmental delay with major / minor anomalies
hx of more than 2 miscarriages or neonatal deaths