A 2.5-year-old boy was presented to his pediatrician for a physical examination and check-up. The physician immediately observed that the patient's height was less than with an obviously shortened trunk and limbs. He also noted that the boy had a difficulty in walking. Mild facial abnormalities could be observed. Numerous osseous deformations were evident by skeletal x-rays: dorso-lumbar kyphosis, abnormally shaped ribs and vertebrae, and epiphyseal dysplasia of both femoral heads.
However, the patient had a normal intelligence quotient and mental developmental state. The pediatrician thought that the child might be suffering from an inherited disorder and hence, referred the patient to a geneticist. The geneticist had previously diagnosed another patient having similar characteristics with a lysosomal storage disorder. This quick diagnosis helped initiate the required test soon.…
