Craniosynostosis
Craniosynostosis is a congenital condition in which one or more of the fibrous sutures joining the skull bones fuse prematurely. The early-closing suture distorts head shape and, in some cases, can restrict brain growth. It occurs in roughly 1 in 2,000-2,500 births and responds well to surgical correction when recognized early.
마지막 업데이트: 2026-06-07
Definition
Craniosynostosis is the premature closure of the sutures that join an infant's skull bones. Normally these sutures stay open until about 18-24 months, leaving room for the growing brain. When a suture fuses early, the skull cannot grow perpendicular to it and instead elongates along that axis, producing characteristic head shapes. Most cases involve a single suture and are isolated (non-syndromic).
Types
The most common type is sagittal craniosynostosis, producing a long, narrow head (scaphocephaly). Coronal synostosis causes forehead asymmetry or flattening (plagiocephaly/brachycephaly), metopic synostosis a triangular forehead (trigonocephaly), and the rare lambdoid synostosis flattening of the back of the head. Multiple-suture synostosis is more serious and is frequently syndromic.
Causes and Risk Factors
Isolated (non-syndromic) craniosynostosis accounts for most cases and is usually sporadic, with no clearly identified cause. Syndromic craniosynostosis (Crouzon, Apert, Pfeiffer, Saethre-Chotzen syndromes) is genetic, often inherited in an autosomal dominant pattern, and linked to mutations in genes such as FGFR2, FGFR3 and TWIST1; these cases may have associated facial and limb anomalies. A family history of craniosynostosis increases the risk.
Symptoms
The most evident finding is an abnormal head shape specific to the fused suture. Other signs include a palpable ridge along the suture line, earlier-than-expected closure of the fontanelle, slowing of head circumference growth and forehead asymmetry. In syndromic cases, eye protrusion (proptosis) is prominent. Signs of raised intracranial pressure—irritability, vomiting and optic disc swelling (papilledema)—are more common with multiple-suture involvement.
Diagnosis
Diagnosis is based on clinical examination and imaging. The physician assesses head shape, palpates the sutures and tracks head circumference on a growth curve. Three-dimensional computed tomography (3D CT) is the reference method for showing fused sutures and bony deformity, and low-dose protocols are preferred. Magnetic resonance imaging (MRI) evaluates the brain and ventricles. Fundoscopy looks for raised intracranial pressure. Genetic testing may be performed when a syndrome is suspected.
Treatment
Treatment is surgical correction, with timing chosen according to the infant's age, the type of synostosis and the technique. Endoscopic strip craniectomy is typically performed in the early months (around 3-6 months); the fused suture is removed through a small incision, followed by a period of helmet (orthosis) therapy to guide head shape. Open cranial vault remodeling is preferred in older infants or with multiple-suture involvement, reshaping and fixing the skull bones. Fronto-orbital advancement may be used for coronal synostosis and facial deformity. Syndromic cases require a multidisciplinary team including pediatric neurosurgery, plastic surgery, genetics and ophthalmology.
Course
In isolated cases diagnosed early, head shape improves after surgery and brain growth is preserved; long-term outcomes are generally good. Untreated cases may show persistent deformity, raised intracranial pressure in some patients and, rarely, visual and developmental problems. The treatment plan and outcomes vary with the child, the type of synostosis and any associated condition; no outcome can be guaranteed. Regular neurosurgical and developmental follow-up is advised after surgery.
참고 문헌
- Greenberg MS. Greenberg's Handbook of Neurosurgery. 10th ed. Thieme; 2023:264-269.
- Winn HR, ed. Youmans Neurological Surgery. 6th ed. Saunders; 2011:1939-1954.
- Governale LS. Craniosynostosis. Pediatr Neurol. 2015;53(5):394-401.
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