Transient Generalized Osteosclerosis in a Newborn Mimicking Congenital Osteopetrosis with Negative Comprehensive Genetic Workup: A Case Report

Abstract

We present a newborn with transient generalized osteosclerosis and negative genetic workup. The etiology of this condition is unknown. Given overlapping radiologic signs with severe forms of osteopetrosis, familiarity with this condition is crucial for correct diagnosis and management.

Keywords

• Transient osteosclerosis
• Osteopetrosis
• heritable bone diseases
• radiological findings
• bone mineral density disorder
• whole genome sequencing