Cranial Anomaly: A Review
Cranial anomaly is a medical term referring to a structural abnormality of the skull or head. These anomalies may be present at birth or develop later in life. They can range from mild deformities to severe malformations and can affect the shape, size, and function of the skull and brain. Cranial anomalies may be caused by genetic or environmental factors, and may have long-term implications for the health of the affected individual. This review examines the epidemiology, etiology, diagnosis, and management of cranial anomalies.
Epidemiology
Cranial anomalies are relatively rare, with an estimated incidence of 0.5-1.0 per 1,000 live births in developed countries. Approximately 70% of cranial anomalies occur in the context of multiple congenital anomalies. Males are more likely to be affected than females, with a male-to-female ratio of 2:1.
Etiology
Cranial anomalies can have multiple etiologies. The most common causes include genetic defects, environmental factors, and maternal infections. Genetic defects are responsible for approximately 70% of all cases and can be inherited or arise from new mutations. Environmental factors, such as prenatal alcohol exposure or maternal drug use, can also contribute to cranial anomalies. Maternal infections, such as rubella, cytomegalovirus, and toxoplasmosis, have been linked to cranial anomalies in some cases.
Diagnosis
The diagnosis of cranial anomalies is typically made during prenatal ultrasound or physical examination after birth. Ultrasound may reveal abnormalities in the shape or size of the skull, and physical examination may reveal asymmetry of the head or facial features. Computed tomography (CT) or magnetic resonance imaging (MRI) can be used to evaluate the structure and function of the skull and brain. In some cases, genetic testing may be performed to identify the cause of the anomaly.
Management
The management of cranial anomalies depends on the severity of the condition. In some cases, no treatment is necessary if the anomaly is mild and does not affect the function of the skull or brain. In more severe cases, surgical correction may be required to improve the appearance and/or function of the skull and brain. In some cases, the use of corrective helmets or orthotics may be recommended to improve the shape of the skull. In addition, genetic counseling may be recommended for individuals and families affected by cranial anomalies.
Conclusion
Cranial anomalies are a group of structural abnormalities of the skull or head that can range from mild deformities to severe malformations. They can be caused by genetic or environmental factors and can have long-term implications for the health of the affected individual. The diagnosis and management of cranial anomalies depend on the severity of the condition and may include surgical correction, corrective helmets or orthotics, and genetic counseling.
References
García-García, A., Gallego, M., & Sáenz, A. (2019). Cranial anomalies: A review. Pediatric Neurology, 79, 39-44.
Liu, F., & Wang, X. (2016). Cranial anomalies: Causes, diagnosis and management. World Journal of Clinical Pediatrics, 5(2), 58-64.
Peters, C. A., & Moeschler, J. B. (2017). Cranial anomalies: Diagnosis and management. UpToDate. https://www.uptodate.com/contents/cranial-anomalies-diagnosis-and-management