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)

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)

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)

Male child, recurrent infections, no mature B cells

Bruton disease (X-linked agammaglobulinemia)

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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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