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7 Cards in this Set
- Front
- Back
5yo B hx b/l--> dislctd radial heads, knee dislocations, flattened facies. What imprtnt orthopaedic-related condtn must check'd? 1 congntl vertical talus 2 congntl trigger thmb; 3 tibial hemimelia; 4 cervical kyphosis 5 congntl pseudoarthrs clavicle |
Larsen’s syndrm multiple dislocated jts->hip, knee, elbow/radial head, foot deformities, scoliosis, & potentially lethal cervical kyphosis. screening xray C spine ID kyphosis & (-) neurologic compltns.Ans4
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larsens syndrome:
1 defition of condition; 2 genetic defct; 3 zone affect 4 Sx-assoc; PE-I/P; provc; n/v E; 5 xray findings; 6 Tx |
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All of the following are assocd w/ Marfan's Syndrm EXCEPT? 1 Dural ectasia; 2 Inferior lens dislocation; 3 Acetabular protrusio; 4 Pectus excavatum; 5 Dolichostenomelia
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Inferior lens dislocation--homocystinuria; superior lens dislocation - Marfan syndrome. Ans2
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Marfan syndrome is AD dz which results from a defective gene encoding for: 1 Elastin; 2 Fibrillin; 3. Fibroblast Growth Factor Receptor 3 (FGFR3); 4. Collagen type 1
5. Collagen type 2 |
mutation in the gene encoding for fibrillin. Fibillin is a glycoprotein common in many tissues which is a structural component of elastin-containing microfibrils. Ans2
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Marfans syndrome: (mnemonic)
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MARFANS: M=MVP-heart, MR; A=Arachnodactyl;R=Retinal detchmnt; F=Fibrillin gene mutn(chr 15); A=Aortic dissection; N=Nystagmaus, Nl IQ; S=Sup lens, scoli
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Marfans syndrome:
1 defition of condition ; 2 genetic defct; 3 zone affect 4 Sx-assoc; PE-I/P; provc; n/v E; 5 xray findings; 6 Tx |
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