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ACHONDROPLASIA - Coggle Diagram
ACHONDROPLASIA
Clinical Features
Head
Macrochepaly
Midfacial retrusion
Trunk
Thoracolumbar khyposis
Lumbar hyperlordosis
Small Chest
Limb
Bowing Legs
Trident Hand
Rhizomelic Shortening
Limited Elbow Extension
Short Fingers
Hypotonia
Hypermobile knee
Epidemiology
250.000 worldwide
Sporadic
1 : 25.000-30.000
Pathogenesis
FGFR3 Gene Mutation
Histological Basic
Human Bone Growth Plate
Proliferating chondrocytes
Hypertrophic chondrocytes
Reserve chondrocytes
Treatment
Experimental Growth Factors
Limb Leghtening Surgery