ACHONDROPLASIA
- The commonest form of abnormal short stature.About 1 in 25,000 births.
- Severe, disproportionate shortening of limb bones may be diagnosed by x-ray before birth.
- The main pathology lies in the abnormal endochondral longitudinal growth.
- Autosomal dominant : Point mutation in the gene coding for FGF receptor 3 (key role in endochondral cartilage growth).
- Adult height is usually around 125 cm in females and 132 cm in males
CLINICAL FEATURES
- Rhizomelic dwarfism
- Proximal part of limb is shorter
- Macrocephaly
- Frontal bossing (broad forehead)
- Midface hypoplasia
- Bradydactyly (short digits)
- Trident hands
- Genu varum
- Thoracolumbar kyphosis
- Foramen magnum stenosis
- Champagne Glass Pelvis
- Inverted V In Distal Femur Physis
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