Diseases

Question 1

Sx: neonatal hypotonia, feeding difficulty, gential hypoplasia, developmental delay, hypopogmentation, distinct face, short

Answer 1

Prader Willi syndrome; paternal chromosome 15 deletion

Question 2

Sx: inappropriate laughter, small head, seizures, mental retardation, ataxia gait,

Answer 2

Angelman syndrome; loss of maternal chromsome 15

Question 3

Signs : autoimmune, inflam of walls of medium sized arteries (+ coronary arteries), cardiac ischemia, in children under 5, fatal coronary artery aneurysms in untreated children

Answer 3

Kawasaki Disease

Question 4

Tx: high-dose aspirin with IV gamma globins

Answer 4

Kawasaki Disease

Question 5

Sx: swallen tongues and feet and lymph nodes in children, strawberry tongue and lips, and through, hands and feet with purple-red color. skin peeling

Answer 5

Kawasaki Disease

Question 6

Sx autoimmune attack on collagen IV chain, kidney failure, hemoptosis (cough blood)

Answer 6

Good pastures’s diseases

Question 7

Lack of Vit.C

Answer 7

Scurvy

Question 8

Lack of hydroxyproline and hydroxylysine, poor wound healing, easy to bruise and bleed, perifollicular

Answer 8

scurvy

Question 9

Sx, Aut dom, brittle bones, blue sclera, hearing loss, mutiple fracture, poor dentation

Answer 9

Osteogensis imperfecta

Question 10

Classical type (type 5 collagen) and vascular type (type iII collagen)

Answer 10

Ehlers danlos syndrome

Question 11

Chr tr(8, 14), sore throat, fatigue, palatal petechiae, or adenopathy, EPV virus infection

Answer 11

Burkett’s lymphoma