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Short stature (4 broad categories)
- 1. Familial
- 2. Constitutional delay of growth
- 3. Chronic systemic disorders.
- 4. Endocrine abnormalities.
- AD; short-limbed dwarfism.
- activated point-mutation of the fibroblast growth factor receptor 3 (at 4p16.3).
- incidence increases with paternal age.
- Epiphyseal growth cartilage fails, but normal bone formation and repair. homozygous form is usually fatal.
May be diagnosed radiographically at birth, or becomes obvious within the first year with disparity between a large skull, normal trunk length and short limbs.
X-rays show metaphyseal irregularity, flaring in the long bones, and late-appearing irregular epiphyses
Features: frontal bossing, midface hypoplasia, long narrow trunk, shortened limbs, limited elbow extension, genu varum, trident hand, short stature, lumbar lordosis, normal IQ, Conductive Hearing Loss (60%), Enchondral Bone Formation
Delayed bone age
- Constitutional maturational delay
- Endocrinologic short stature (e.g. hypothyroid, hypopitutarism)
Advanced bone age
Advanced bone agePuberty, androgens (e.g. CAH). Also tend to be advanced in the obese child
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