PEDIATRICS

OPHTHALMOLOGY

ORTHOPAEDICS

ACADEMICS

RADIOLOGY

Rising Star

<p>A 2-month-old baby arrived at the outpatient department exhibiting blue sclera and skeletal abnormalities (enhanced bone curvature/twisted bones). What is the likely diagnosis, gene involved in this condition and treatment?</p>

MediSage

A 2-month-old baby with blue sclera and skeletal abnormalities is likely to have osteogenesis imperfecta (OI), a rare genetic disorder that causes brittle bones. The most common gene involved in OI is COL1A1.

2-Month-Old Baby with Blue Sclera and Skeletal Abnormalities

A 2-month-old baby

Medical Students

Clinical case discussion shared for educational purposes and professional medical opinion.