Ch. 26: Bones, Joints, ST Flashcards
gain FGFR3
Achondroplasia, Thanatothrophic
COL1A1, COL1A2
Osteogenesis Imperfecta
Blue Sclera, Dental Imperfections, Hearing Loss
Ost. Imp. (Type 2 = lethal)
CA2, CLCN7; low acidification
Osteopetrosis
SQSTM1, gain RANK, loss OPG
Paget Dz
Mosaic Pattern, Lion facies, Chalk Stick Fx, Heart failure, Osteosarcoma, high ALP
Paget Dz
Frontal Bossing, Bowed legs, Short Stature, Rachitic Rosary, decr. mineralization
Rickets
Brodie Abscess
Osteomyelitis
Saber Shin, Spirochetes, Gummas, Edematous granulation
Syphilis
SMALL, nocturnal pain, relieved by NSAIDs; middle lucency (nidus) surrounded by sclerosis (Metaphysis of long bone)
Osteoid Osteoma
Osteoma + FAP (GI) + Retroperitoneal Fibrosis
Gardner Syndrome
LARGE, vertebral column, NOT responsive to NSAIDs
Osteoblastoma
Bimodal Tumor; RB, TP53, INK4a, MDM2, CDK4; Codman triangle; sunburst; pleomorphic cells in fine lace-like pattern
Osteosarcoma
EXT1/EXT2; Exostosis
Osteochondroma
IDH1/2
Enchondroma