Down's syndrome

Question 1

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Question 2

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Question 3

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Question 4

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Question 9

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Question 10

Down’s syndrome clinical features of the face ?

Answer 10

: upslanting palpebral fissures, epicanthic folds
, Brushfield spots in iris,
protruding tongue,
small low-set ears, round/flat face
flat occiput

Question 11

gastrointestinal problems ?

Answer 11

duodenal atresia
Hirschsprung’s disease

Question 12

musculoskeletal problems ?

Answer 12

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

Question 13

cardiac complications ?

Answer 13

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 14

later complication of down syndrome ?

Answer 14

subfertility: males are almost always infertile due to impaired spermatogenesis. Females are usually subfertile, and have an increased incidence of problems with pregnancy and labour
learning difficulties
short stature
repeated respiratory infections (+hearing impairment from glue ear)
acute lymphoblastic leukaemia
hypothyroidism
Alzheimer’s disease
atlantoaxial instability