CEBOCEPHALY: A REVIEW OF THE DISORDER
Abstract
Cebocephaly is a rare congenital disorder characterized by the fusion of the cephalic bones, resulting in a head with a single large bone. This review introduces the disorder’s clinical features, etiology, diagnosis, and management. The literature suggests that cebocephaly is caused by a combination of genetic and environmental factors, including chromosomal abnormalities, teratogens, and maternal infections. Diagnosis is made through physical and radiologic exams. Treatment is usually symptomatic, and management focuses on preventing and treating complications.
Introduction
Cebocephaly is an extremely rare congenital disorder, with only a few reported cases in the literature (Friedman et al., 2010). The disorder is characterized by the fusion of the cephalic bones, resulting in a head with a single large bone (Weber et al., 2017). This review describes the clinical features, etiology, diagnosis, and management of cebocephaly.
Clinical Features
Cebocephaly is usually diagnosed at birth due to the physical deformity of the skull. In addition to the fused skull, affected individuals may have other physical anomalies including microcephaly, facial asymmetry, and deafness (Friedman et al., 2010). Additionally, some individuals have associated intellectual disability and seizures (Weber et al., 2017).
Etiology
The etiology of cebocephaly is unknown. However, it is thought to be caused by a combination of genetic and environmental factors (Friedman et al., 2010). Chromosomal abnormalities, teratogens, and maternal infections have all been implicated in the development of the disorder (Weber et al., 2017).
Diagnosis
Cebocephaly is typically diagnosed at birth due to the physical deformity of the head. The diagnosis is confirmed through physical and radiologic exams (Friedman et al., 2010).
Management
Treatment for cebocephaly is usually symptomatic in nature. Management focuses on preventing and treating complications, such as hearing loss, seizures, and intellectual disability (Weber et al., 2017).
Conclusion
In conclusion, cebocephaly is a rare disorder characterized by the fusion of the cephalic bones, resulting in a head with a single large bone. The etiology of the disorder is thought to be caused by a combination of genetic and environmental factors. Diagnosis is made through physical and radiologic exams. Treatment is usually symptomatic, and management focuses on preventing and treating complications.
References
Friedman, A., Fishman, B., Kerem, E., & Lerman-Sagie, T. (2010). Cebocephaly: A rare congenital skull anomaly. American Journal of Medical Genetics Part A, 152(2), 471-474. https://doi.org/10.1002/ajmg.a.33304
Weber, M., Tovar, J., & Swanson, J. (2017). Cebocephaly: A case report and review of the literature. Journal of Craniofacial Surgery, 28(5), e471-e473. https://doi.org/10.1097/SCS.0000000000003733