A rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results.
* Acrohypoplasia * Blue sclera * High-pitched voice * Delayed menarche * Childlike proportions in adults * Proportionally larger head * Limited elbow extension * Reduced intelligence * Superior intelligence * Short stature * Delayed bone age * High level of circulating growth hormone * Low blood sugar level * Delayed tooth eruption * Saddle nose * Deep-set eyes * Abnormal skull growth * Delayed sexual development * Small hands * Small feet * Obesity
Determinewhether problem is primarily one of impaired weight gain, lineargrowth, or combination. Complete history and physical examshould be performed. Growth parameters (weight, height,head circumference) should be plotted on growth charts publishedby CDC (2001). All past measurements should also be plotted on thesegrowth curves.