PMC5544984_01
Dysmorphic features: prominent long nasal bridge and forehead, small lower jaw, thin lips, strabismus, down slanting palpebral fissures and low set cupped ears
13633_2017_47_Fig1_HTML.jpg
PMC5544984_01_13633_2017_47_Fig1_HTML.jpg
Fig1
He has dysmorphic features including prominent long nasal bridge and forehead, small lower jaw, thin lips, low set cupped ears, strabismus and down-slanting palpebral fissures (Fig. 1).
a Height and its response to GH and IGF1 treatment. b Weight
13633_2017_47_Fig2_HTML.jpg
PMC5544984_01_13633_2017_47_Fig2_HTML.jpg
Fig2
A trial of rhGH (recombinant human growth hormone) (50 mug/kg/day) for a period of 1 year was ineffective in improving height velocity (Fig. 2a). An IGF1 (insulin growth factor-1) generation test after 33 mug/kg of rhGH did not produce any response. Subsequently, recombinant IGF1 (rIGF1) therapy (mecasermin) was commenced at 12.5 years which resulted in improvement of height velocity to -3SDS (Fig. 2a). The weight gain continues to be suboptimal (Fig. 2b).