Primary craniosynostosis

Primary Craniosynostosis is a birth defect that affects the skull of a newborn baby, causing one or more of the fibrous joints between the bones of the baby's skull (known as cranial sutures) to close prematurely (fuse), before the baby's brain is fully formed. Brain growth continues, giving the head a misshapen appearance.

Causes

Primary craniosynostosis is usually an isolated finding in an otherwise normal child. The cause of primary craniosynostosis is unknown, but it is thought to be a combination of genetic and environmental factors. Some cases are associated with genetic disorders such as Crouzon syndrome, Apert syndrome, and Pfeiffer syndrome.

Symptoms

Symptoms of primary craniosynostosis may include a misshapen skull, a hard ridge along the affected sutures, and a slow or no increase in the head size over time as the baby grows. In severe cases, increased intracranial pressure may occur, leading to developmental delays, cognitive impairment, and vision problems.

Diagnosis

Diagnosis of primary craniosynostosis involves a physical examination, medical history, and imaging tests such as X-ray, CT scan, or MRI. The shape of the skull and the presence of a ridge along the sutures may suggest the diagnosis.

Treatment

Treatment for primary craniosynostosis usually involves surgery to correct the shape of the head and relieve pressure on the brain and the cranial nerves. For some children, a less invasive procedure using endoscopy may be an option. In either case, the surgery is usually done during the first year of life.

Prognosis

With early diagnosis and treatment, most children with primary craniosynostosis do well. They lead normal lives and have normal intelligence. However, they may need additional surgeries as they grow and develop.

See also

• Craniofacial surgery
• Pediatric neurosurgery
• Congenital disorder