Classic Presentations Flashcards
Gout, intellectual disability, self mutilating behavior in a boy
Lynch nyhan sx
Hgprt deficiency
X linked recessive
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome
Dynein arm defect affecting cilia
Blue sclera
Osteogenesis imperfecta
Type I collagen defect
Elastic skin, hypermobility of joints, high bleeding tendency
Egnlers danlos syndrone
Type V defect
Type III defect in vascular subtype
Arathnodactyly, lens dislocation aortic dissection
Marfan syndrome.)
Fibrilin defect
Café-au-lait spots (unilateral) polyostotic fibrous dysplasia, precocious puberty multiple endocrine abnormalities
Mccune - Albright syndrome
Gs-protein activating mutation
Calf pseudo hyperthrophy
Muscular dystrophy
Child uses arms to stand up from squat
Gowers sign
Duchenne dystrophy (x linked recessive frameshift mutation of dystrophin gene)
Slow, progressive muscle weeakness in boys
Becker muscular dystrophy
X linked non frame shift deletions in dystrophin
Slow, progressive muscle weeakness in boys
Becker muscular dystrophy
X linked non frame shift deletions in dystrophin
Infant with cleft lip, micro/hololoprocencephaly, polydactily, cutis aplasia
Patau sx
Trisomy 13
Infant with Microencephaly, rocker-bottom feet, clemched hands, structural heart defect
Edwards syndrome
Trisomy 18
Dilated cardiomyopathy, edema, alcoholism or malnutrishion
Wet beriberi
Thiamine (vitamin b1) deficiency
Dermatitis, dementia, diarrhea
Pellagra
Niancin (vitamin b 3) deficiency
Swollen gums, mucosa, bleeding , poor wound healing, petechiae
Scurvy
Vit c deficiency
Cant hydroxylate proline/lysine for collagen synthesis
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease
Skeletal muscle glycogen phosphorylase deficiency
