Pseudodiastrophic dysplasia
Overview
A rare genetic disorder characterized by short stature, contractures and joint dislocations.
Symptoms
* Hyperthermia * Contractures * Short birth length * Short upper arms * Short upper legs * Blue gray sclera * Widely spaced eyes * Flat nasal bridge * Malformed ears * Cleft palate * Dislocated elbow * Dislocated finger joints * Dislocated toe joints * Club feet * Abnormal curvature of the spine
Diagnosis
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.
Prognosis
Prognosis of Pseudodiastrophic dysplasia: usually death during first year