Achondroplasia is the most common skeletal dysplasia. It results in Rhizomelic dwarfism (the dominant feature is proximal (i.e. femoral and humeral) limb shortening). Characterized by disproportionate dwarfism (normal sized torso & short limbs). Results from a defect in endochondral bone formation (cartilage doesn’t convert to bone) - Patients are of normal intelligence with normal motor function.
Achondroplasia

Micromelic
My amazing niece Rilee who has achondroplasia dwarfism. She is perfect <3 We all love her so much!!
Achondroplasia


Micromelia Vs Achondroplasia
Achondroplasia: Medicine Notes


Anophthalmia/Microphthalmia Overview. *** THIS A GOOD ONE ***
Micromelic Limbs
Achondroplasia. Note squaring of the iliac wings (tombstone pelvis), flattening of the acetabular angles (yellow arrows), genu varum deformities (white arrows) with widened but shorter femurs and flaring of the metaphyses (green arrow). Inner pelvis is shaped like a champagne glass. - See more at: http://www.learningradiology.com/archives2014/COW%20591-Achondroplasia/achondrocorrect.html#sthash.k0qQYsee.dpuf
FGFR-3 mutation, AD









