Coarse Facial Features, Short Stature, Spinal Deformity

March 10, 2015

Case History: Skeletal survey for coarse facial features, short stature, spinal deformity in male child of normal intelligence.

Case History: A male child of normal intelligence belonging to a nonconsanguineous marriage was sent to the radiology department for skeletal survey in view of coarse facial features, short stature, and spinal deformity.

Male child of normal intelligence belonging to a nonconsanguineous marriage.

Figure 1. AP radiograph of the hand showing bullet-shaped metacarpals and slanting distal growth plates of the radius and ulna.

Figure 2. Lateral radiograph of the skull showing frontal bossing and J-shaped sella.

Figure 3. Lateral radiograph of the spine showing platyspondyly with central beaking of the vertebral bodies.

Diagnosis: Morquio syndrome

Patients with Morquio syndrome do not develop mental retardation.

Differential diagnoses: Hurler's syndrome and other mucopolysaccharidosis