Down's syndrome

Question 1

Features

Answer 1

face: upslanting palpebral fissures, epicanthic folds,

Brushfield spots in iris, protruding tongue, small low-set ears,

round/flat face

flat occiput

single palmar crease, pronounced ‘sandal gap’ between big and first toe

hypotonia

congenital heart defects (40-50%, see below)

duodenal atresia

Hirschsprung’s disease

Question 2

cardiac complications

Answer 2

multiple cardiac problems may be present

endocardial cushion defect (most common, 40%, also known as atrioventricular septal canal defects)

ventricular septal defect (c. 30%)
secundum atrial septal defect (c. 10%)

tetralogy of Fallot (c. 5%)

isolated patent ductus arteriosus (c. 5%)

Question 3

later complications

Answer 3

sub fertility

learning difficulties

short stature

repeated Resp infections

ALL

hypothyroidism

alzheimer’s disease

atlantoaxial instability

Question 4

visin problems

Answer 4

refractive errors are common

strabismus

cataracts

recurrent blepharitis

glaucoma

Question 5

hearing problems

Answer 5

otters media

glue ear