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DXI - Dysplasia Study set
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DXI - Dysplasia Study setNail-Patella Syndrome - ANSWER Fong's disease
dysplastic fingernails, small/absent patella, posterior iliac horns, renal dysplasia
Fibrodysplasia Ossificans Progressive - ANSWER disorder of connective tissue,
progressive ossification of striated muscle, tendon, and ligament
"turned to wood"
aka Munchmeyer's disease
short thumbs and 1st toe, widespread tissue ossification
Infantile Cortical Hyperostosis - ANSWER Caffey's disease
widespread periosteal reaction before age 5mo
usually self limiting
fever, hyperirritability, soft tissue swelling
periosteal reactions (mandible, clavicles, ribs, tubular bones)
Marfans Syndrome - ANSWER familial connective tissue disorder, primary defect
unknown
tall thin, disproportionately long extremities
muscle hypoplasia and hypotonicity
scarce subcutaneous fat
normal mental status
+ steinberg sign
arachnodactyly - elongation
pectus excavatum
, lens dislocates upwards
most die of aortic aneurysms
>20 degree scoliosis
posterior body scalloping
Ehlers-Danlos Syndrome - ANSWER familial connective tissue disorder
hyperelasticity of skin, lax joints bleeding disorder
male caucasians
skin soft and velvety w/ scarring
die from aneurysms
arachnodactyly
early osteoarthritis, kyphoscoliosis, posterior body scalloping
no primary osseous abnormality
pes planus
Homocystinuria - ANSWER familial disorder from deficient cystathionine
synthetase, defect in collagen synthesis
mental retardation and seizures
thrombotic episodes
downward lens dislocation
arachnodactyly, scoliosis
posterior body scalloping
osteoporosis - fish bodies
Neurofibromatosis - ANSWER inherited
consisting of type 1 or 2
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