Genetic Disorders & Inborn Errors Of Metabolism

Question 1

Prader-Willi

Answer 1

Ch. 15, absent paternal, fishlike mouth, FTT, hyperphagia, hypotonia, hypogonadism

Question 2

Angelman

Answer 2

Ch. 15, maternal absent, happy puppet w jerky hand movements, blond/blue eyed, widely spaced teeth

Question 3

Noonan

Answer 3

Ch. 12, short stature, shield chest, short webbed neck, low hairline, pulmonary valve stenosis, “male turners”

Question 4

DiGeorge

Answer 4

Ch. 22, CATCH-22: cardiac, abnormal face, thymic hypoplasia, cleft palate, hypocalcemia

Question 5

Marfan

Answer 5

Chromosome 15, AD, fibrillin defect, aortic root dilation, ocular lens subluxation skeletal findings

Question 6

Ehler-Danlos

Answer 6

Type V collagen, hyperextensible, fragile skin, MVP, aortic root dilation

Question 7

Osteogenesis imperfecta

Answer 7

Abnormal type I collagen, knock knees, fragile bones, blue teeth, blue sclerae, conductive hearing loss

Question 8

VACTERL

Answer 8

Vertebrae, anal atresia, cardiac (VSD), tracheoesophageal fistula, renal, limb defects

Question 9

Williams

Answer 9

Ch. 7, cocktail party, elastin gene, elfin face, autosomal Dom, AS, hypercalcemia, hoarse voice

Question 10

Cornelia de Lange

Answer 10

Single eyebrow, short, AD, SGA, FTT, hypertonia