Genetic Disorders

For each of the following patients, select the most likely inherited disorder:

1. A neonate has renal failure from birth, along with difficulty with respiration from pulmonary hypoplasia:

2. A 35-year-old man with a history of respiratory tract infections since childhood now has widespread pulmonary bronchiectasis, with Pseudomonas aeruginosa cultured from sputum:

3. A 22-year-old man has severe occlusive coronary artery atherosclerosis and suffers an acue myocardial infarction:

4. A 6 month old caucasian girl has hepatosplenomegaly, generalized lymphadenopathy, xanthomas of the skin, and progressive psychomotor deterioration:

5. A 42-year-old man has numerous subcutaneous nodules and has many cafe au lait spots on his skin:

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A. Achondroplasia B. Albinism C. Cretinism D. Cystic fibrosis E. Dominant polycystic kidney disease
F. Fabry disease G. Familial hypercholesterolemia H. G6PD deficiency I. Galactosemia J. Gaucher disease
K. Hemochromatosis L. Marfan syndrome M. Neurofibromatosis N. Niemann-Pick disease O. Phenylketonuria
P. Pompe disease Q. Recessive polycystic kidney disease R. Sickle cell anemia S. Tay-Sachs disease T. Von Gierke disease
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