Wegmann Jones Smith syndrome
Overview
Wegmann Jones Smith syndrome: A syndrome which is characterised by the occurrence of short limbs, oedema and iris coloboma
Symptoms
Short limbs Oedema Iris coloboma Iris coloboma Oedema
Causes
Hypoabluminemia Impaired lymphatic drainage Pregnancy Heart failure Renal disease Nephrotic syndrome Acute poststreptococcal glomerulonephritis (see Glomerulonephritis) Proliferative nephropathy Membranous nephropathy
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.