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Rapid Review FA

Classic Presentations Page 1

QuestionAnswer
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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