A rare disorder characterized by severe dwarfism, kyphoscoliosis, contractures of the large joints and twisted and bowed limb bones.
* Delayed walking * Abnormal gait * Leg deformities * Large joint contractures * Bowed legs * Genu valga * Twisted thighs * Kyphoscoliosis * Short neck * Decreased bone density * Cranial vault deformities * Long bone deformities
Routine studies should include a CBC, sedimentation rate, urinalysis, chemistry panel, thyroid profile, VDRL test, quantitative stool fat, a sweat test, and x-rays of the skull and long bones. If Turner's syndrome is suspected, a buccal smear for sex chromogen may be done. If pituitary dwarfism is suspected, a CT scan of the skull may be helpful. Additional endocrine tests include a serum growth hormone level before and after exercise, a resting somatomedin-C level, and an overnight dexamethasone suppression test. In patients suspected of having rickets and hypoparathyroidism, 24-hr urine calciums may be done. However, it is best to consult a pediatrician, endocrinologist, or orthopedic surgeon before proceeding with expensive diagnostic tests.