Genetic And Metabolic Disorders

Question 0

Trisomy 18 - Edwards

Answer 0

Prominent occipital
Low set ears
Micrognathia
CHD
Clenched hands with overlapping fingers
Rocker bottom feet 
Horseshoe kidney
Poor px

Question 1

Trisomy 21

Answer 1

Brachycephaly, excessive gap between first and second toes - sandal sign, generalize hypotonia, endocardial cushion defects, duodenal atresia, hirschsprungs, hypothyroidism, MR, ALL, AD

Question 2

Trisomy 13 - Patau syndrome

Answer 2

Microcephalic, Cutis aplasia, Cleft palate and lip
CHD
Omphalocele
Clenched hands with overlapping fingers, Polydactyly
Poly cystic kidneys
Agenesis of corpus callosum

Question 3

Tuner Syndrome

Answer 3

XO
Webbed neck, shield chest, streak ovaries , edematous hands and feet, short, horseshoe kidney, coarctation
PPX gonadectomy

Question 4

Klinefelter

Answer 4

XXY

Female body habitus, gynecomastia, small phallus and testes, infertility, arm span greater than height

Question 5

Prader Willi

Answer 5

15q11 - paternal deletion or maternal uniparental disomy

Almond shaped eyes, small hands and feet, hypotonia, hyperphagia, obesity, OSA, CVD, DM

Question 6

Angelman Syndrome

Answer 6

15q11 - maternal deletion or paternal uniparental disomy

Maxillary Hypoplastic, prognathic, inappropriate laughter, jerky movements, tiptoe walking

Question 7

Fragile X

Answer 7

Trinucleotide repeat CCG

Macrosomia, macroorchidism, large jaws and ears, MR

Question 8

22q11 deletion

Answer 8

DiGeorge, VCF syndrome

Tet, interrupted aortic arch, absent thymus, hypocalcemic hypoparathyroidism, palate abn.

Question 9

VACTERL

Answer 9

Vertebral anomalies, Anal atresia, Cardiac defects, Tracheoesophageal fistula and/or Esophageal atresia, Renal & Radial anomalies and Limb defects

Question 10

Galactosemia

Answer 10

Deficient galactose1po4 uridyl transferase
Gal1po4 accumulates in liver, brain, kidneys
FTT, bilateral cataracts, jaundice, hypoglycemia, HSM, MR, liver cirrhosis
vs galactokinase deficiency - cataracts only

Question 11

PKU

Answer 11

Phe hydroxylase deficiency

MR, hypertonia, tremors, fair complexion, mousey smell to urine

Question 12

Homocystinuria

Answer 12

No infantile sx

Marfanoid habitus, sublux lens, MR, vascular thromboses

Question 13

OTC deficiency

Answer 13

XL

Sx ensue after eating protein, lethargic, seizures, coma from hyperammonemia