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Rapid Review FA
Classic Presentations Page 1
| Question | Answer |
|---|---|
| Gout, intellectual disability, self-mutilating behavior in a boy | Lesch-Nyhan Syndrome (HGPRT deficiency, X-Linked recessive) |
| Situs inversus, chronic sinusitis, bronchietasis, infertility | Kartagener syndrome (dynein arm defect affecting cilia) |
| Blue sclera | Osteogenesis imperfecta (type I collagen defect) |
| Elastic skin, hypermobility of joints, higher bleeding tendency | Ehlers-Danlos syndrome (Type V collagen defect, type III collagen defect seen in vascular subtype) |
| Arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints | Marfan syndrome (fibrillin defect) |
| Cafe-au-lait spots (unilateral), polyostic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities | McCune-Albright syndrome (Gs-protein activating mutation) |
| Calf pseudohypertrophy | Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene) |
| Child uses arms to stand up from squat | Duchenne muscular dystrophy (Gowers sign) |
| Slow, progressive muscle weakness in boys | Becker muscular dystrophy (X-linked non-frameshift deletions in dystrophin; less severe than Duchenne) |
| Infant with cleft/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia | Patau syndrome (trisomy 13) |
| Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect | Edward syndrome (trisomy 18) |
| Single palmar crease | Down syndrome |
| Dilated cardiomiopathy, edema, alcoholism or malnutrition | Wet beriberi (thiamine [vitamin B1] deficiency) |
| Dermatitis, dementia, diarrhea | Pellagra (niacin [vitamin B3] deficiency) |
| Swollen gums, mucosal bleeding poor wound healing, petechiae | Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis) |
| Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria | McArdle disease (skeletal muscle glycogen phosphorylase deficiency) |
| Infant with hypoglycemia, hepatomegaly | Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phospatase deficiency, more severe) |
| Myopathy (infantile hypertrophic cardiomiopathy), exercise intolerance | Pompe disease (lysosomal alfa-1,4-glucosidase deficiency) |
| "Cherry-red spots" on macula | Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion |
| Hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femoral head, bone crises | Gaucher disease (glucocerebrocidase deficiency) |
| Achilles tendon xanthoma | Familial hypercholesterolemia (low LDL receptor signalin) |
| Anaphylaxis following blood transfusion | IgA deficiency |
| Male child, recurrent infections, no mature B cells | Bruton disease (X-linked agammaglobulinemia) |
Created by:
peterapichardo
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