Basic Science / Structures > Bone and Cartilage

Bone and Cartilage

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Bone finding:Diagnosis:

 

bifurcated ribsBasal Cell Nevus syndrome

 

chondrodysplasia punctataConradi-Hunerman syndrome (= XD type)

 

jaw osteomasGardners syndrome

 

lobster claw deformity (oligodactyly)Goltz syndrome

 

odontogenic keratocystsBasal Cell Nevus syndrome

 

osteopoikilosis Bushcke-Olendorf

 

osteopathia striata vertical striations in metaphysis of long bones on x-ray Goltz syndrome

 

posterior iliac hornsnail-patella syndrome

 

sphenoid wing dysplasiaNeurofibromatosis I

 

lytic bone lesions in the claviclesacne fulminans

       (“inflammatory osteomyelitis” not infectious)

 

“punched out” skull defectsLetterer-Siwe disease

 

polyostotic fibrous dysplasiaMcCune-Albright syndrome

 

enchondromas Mafuccis syndrome

       (15-20% will develop into chondrosarcomas)

 

absent/hypoplastic thumbs, radiusRothmund-Thomson syndrome

 

“opera glass fingers”multicentric reticulohistiocytosis

 

 

 

 

Soft tissue and bony (limb) hypertrophy ddx:

Proteus syndrome (characteristic plantar hyperplasia)
Klippel-Trenauny-Webber syndrome
Mafucci syndrome

 

Cartilage

enchondromas (15-20% will develop into chondrosarcomas) - Mafuccis syndrome
relapsing polychondritis
chondrodermatisis nodularis helicis
alkaptonuria