Cole-Carpenter syndrome

An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance.

Signs and symptoms

• Scoliosis
• Short stature
• Coronal craniosynostosis
• Popcorn calcification
• Midface retrusion
• Osteopenia
• Recurrent fractures
• Vertebral compression fracture
• Communicating hydrocephalus
• Proptosis