An unusual diagnosis for an usual test

Area of Science:

• Genetics
• Pediatrics
• Orthopedics

Background:

• Hereditary multiple osteochondromas (HMO) is a genetic disorder.
• Characterized by multiple osteochondromas near long bone growth plates.
• Diagnosis in children can be challenging due to asymptomatic presentation.

Observation:

• A girl presented with growth delay.
• X-rays revealed multiple osteochondromas.
• Genetic testing confirmed EXT1/EXT2 gene mutation.

Findings:

• The patient inherited the EXT1/EXT2 mutation from her mother.
• The mother also had radiological abnormalities and limb pain.
• Confirmed diagnosis of Hereditary multiple osteochondromas.

Implications:

• Pediatricians should consider skeletal dysplasia in unexplained growth delay.
• Skeletal surveys are vital for diagnosing HMO.
• Early diagnosis aids in managing complications like deformities and pain.