A neonate with metatropic dysplasia: A case report

Abstract

Metatropic dysplasia is a rare form of skeletal dysplasia in which characteristic clinical and imaging features are found at birth. The short limbs with relatively long trunk seen in the neonatal period change to short trunk in childhood due to progressive kyphoscoliosis. This rare condition should be diagnosed in the neonatal period to avoid diagnostic dilemma in later life. A 2-day-old baby girl was referred for a skeletal survey study to diagnose the underlying skeletal dysplasia. The metatropic dysplasia was diagnosed based on plain radiographic findings. This case report highlights the characteristic radiographic findings of this rare disease entity.

Keywords

• skeletal dysplasia
• metatropic dysplasia
• neonate
• dumbbell shape long bones
• case report