An Unusual Case Of Short Stature With Arthro-oto-opthalmopathy: Marshall Syndrome?

A fourteen year old girl was brought to our clinic who had clinical features of short stature, sensorineural deafness, high myopia and recurrent subluxation of both elbows. Radiological findings included thickened calvarium with intracranial calcifications, small iliac wings and fusion of lumbar vertebrae with osteopenia. Based on clinical features and radiological findings, she was diagnosed to be a case of Marshall Syndrome. Proper diagnosis is important to avoid unnecessary and costly investigations in such patients.