Progeria syndrome: a case report

Abstract

Progeria is a rare and peculiar combination of dwarfism and premature aging. The incidence is one in several million births. It occurs sporadically and is probably an autosomal recessive syndrome. Though the clinical presentation is usually typical, conventional radiological and biochemical investigations help in confirming the diagnosis. We present a rare case of progeria with most of the radiological features as a pictorial essay.

Keywords: Acrogeria; dwarfism; progeria.

Figure 1

X-ray of the skull, AP (a) and Lateral (b) views showing multiple wormian bones, diastasis of the sagittal suture (a) and prominent vascular markings (b)

Figure 2

Lateral radiograph of the mandible shows small mandible with small ascending ramus and infantile obtuse angle

Figure 3

Radiograph of the chest shows absence of the lateral half of the clavicle and thin ribbon-like third rib on both sides

Figure 4

Focused lateral radiograph of the dorsal spine shows fishmouth vertebra

Figure 5

Radiograph of both hips shows severe coxa valga

Figure 6

Radiograph of both hands shows acro-osteolysis

Figure 7

Radiograph of both feet shows acro-osteolysis