bifurcated ribs | Basal Cell Nevus syndrome |
chondrodysplasia punctata | Conradi-Hunerman syndrome (= XD type) |
jaw osteomas | Gardner’s syndrome |
lobster claw deformity (oligodactyly) | Goltz syndrome |
odontogenic keratocysts | Basal Cell Nevus syndrome |
osteopoikilosis | Bushcke-Olendorf |
posterior iliac horns | nail-patella syndrome |
sphenoid wing dysplasia | Neurofibromatosis I |
lytic bone lesions in the clavicles | acne fulminans |
(“inflammatory osteomyelitis” – not infectious)
“punched out” skull defects | Letterer-Siwe disease |
polyostotic fibrous dysplasia | McCune-Albright syndrome |
enchondromas | Mafucci’s syndrome |
(15-20% will develop into chondrosarcomas)
absent/hypoplastic thumbs, radius | Rothmund-Thomson syndrome |
“opera glass fingers” | multicentric reticulohistiocytosis |
Soft tissue and bony (limb) hypertrophy ddx:
• | Proteus syndrome (characteristic plantar hyperplasia) |
• | Klippel-Trenauny-Webber syndrome |
Cartilage
• | enchondromas (15-20% will develop into chondrosarcomas) - Mafucci’s syndrome |
• | relapsing polychondritis |
• | chondrodermatisis nodularis helicis |
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