Chromosomal Disorders

Question 1

Down Syndrome

Answer 1

Trisomy 2
Clinical features:
- flat/coarse facies, upward slanting of eyes, epicanthic folds
- posterior fontanel open after birth
- furrowed protruded tongue
- intellectual disability & physical retardation
- small skull, brachycephalic with flat occiput
- nose: small, flat nasal bridge
- mouth: narrow short palate, small teeth
- significant hypotonia
- oblique palpebral fissure seen when eyes open
- small ears & dysplastic
- facial grimace on crying
- short & broad hands, Clinodactyly (hypoplasia of middle phalanx of 5th finger)
- simian crease
- sandle gap (wide gap b/w 1st & 2nd toes)

Mx:
- early stimulation
- physiotherapy
- speech therapy