Bowing of legs- anterior- with dwarfism
Overview
Anterior bowing of legs with dwarfism is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Anterior bowing of legs with dwarfism, or a subtype of Anterior bowing of legs with dwarfism, affects less than 200,000 people in the US population.
Symptoms
* Short stature * Mental retardation * Concentration difficulties * Learning difficulties * Bowed legs * Multiple bone deformities * Scoliosis * Kyphosis * Dwarfism * Mental retardation * Bowed legs * Minor arm alterations * Squared iliac bones * Dural calcification
Causes
* Achondroplasia * Malnutrition * Diseases causing malnutrition * Malabsorption * Cystic fibrosis * Celiac disease * Lung disease * Congenital heart disease * Congenital hypothyroidism * Rickets * Pituitary gland disorders * Down syndrome * Turner syndrome
Diagnosis
DWARFISM: DIAGNOSTIC WORKUP (Algorithmic Diagnosis of Symptoms and Signs) 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.