Craniosynostosis: Clinical Characteristics, Molecular Mechanisms and Treatment

Suray Pehlivanoglu (Author), Sebnem Pehlivanoglu (Author)

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Craniosynostosis is a congenital condition marked by the early fusion of one or more cranial sutures. Cranial sutures are fibrous tissues that connect the skull bones. They play a crucial role in ensuring bone formation at the edges of the calvarial bones, which move apart to facilitate the passage of the head through the birth [...]

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    Work TypeBook Chapter
    Published inMolecular Approaches in Medicine
    First Page109
    Last Page133
    DOIhttps://doi.org/10.69860/nobel.9786053359524.6
    Page Count25
    Copyright HolderNobel Tıp Kitabevleri
    Licensehttps://nobelpub.com/publish-with-us/copyright-and-licensing

    Craniosynostosis is a congenital condition marked by the early fusion of one or more cranial sutures. Cranial sutures are fibrous tissues that connect the skull bones. They play a crucial role in ensuring bone formation at the edges of the calvarial bones, which move apart to facilitate the passage of the head through the birth canal and allow for future brain growth. The premature fusion limits skull growth perpendicular to the affected sutures, potentially resulting in abnormal head shapes, increased intracranial pressure, and developmental delays. The prevalence of craniosynostosis is about 1 in 2100-3000 births. Craniosynostosis is primarily categorized into primary and secondary types. Primary craniosynostosis is further divided into non-syndromic and compound craniosynostosis, the latter including bicoronal synostosis and syndromic craniosynostosis. Approximately 85% of craniosynostosis cases are non-syndromic, with 92% being sporadic. Non-syndromic craniosynostosis can present as sagittal, coronal, metopic, or lambdoid synostosis. Sagittal synostosis is the most common type, with a prevalence of 40–55%. To date, over 180 craniosynostotic syndromes have been described. Typically, these syndromes show autosomal, recessive, and X-linked inheritance patterns. Some classic craniosynostosis syndromes include Apert syndrome, Antley-Bixler syndrome, Carpenter syndrome, Crouzon syndrome, Jackson-Weiss syndrome, Muenke syndrome, Pfeiffer syndrome, and Saethre-Chotzen syndrome. The genes associated with craniosynostoses include FGFR1, FGFR2, FGFR3, TWIST1, RAB23, EFNB1, TCF12, MSX2, POR, and ERF. FGFR signaling regulates proteoblast/osteoblast differentiation, proliferation, migration, and apoptosis, as well as vertebrate organogenesis and morphogenesis. Gain-of-function mutations in components of this signaling pathway have been implicated in craniosynostoses. Genetic algorithms provide a roadmap for diagnosing syndromic craniosynostosis based on genetic causes. Genetic tests should be guided by clinical findings, family history, and available scientific evidence. The diagnosis of a specific type of syndromic craniosynostosis should integrate clinical and genetic findings. Managing craniosynostosis requires a collaborative effort from various medical disciplines. Treatment typically involves surgical intervention to address both functional and cosmetic concerns. The optimal timing and approach to treatment depend on factors such as the severity of cranial deformity, the age of the patient, and the specific type of craniosynostosis.

    Suray Pehlivanoglu (Author)
    Associate Professor, Necmettin Erbakan University
    https://orcid.org/0000-0001-7422-2974
    3Assoc. Prof. Dr. Suray Pehlivanoglu is a dedicated scientist with international publications, specializing in congenital diseases, cellular therapies, and cancer biology. In the field of congenital diseases, he has contributed to the establishment of the craniosynostosis mutation spectrum in Turkish cases. Additionally, he is conducting research on alternative signaling pathways leading to congenital primary immunodeficiencies, supported by the Turkish Health Institutes Presidency. The TUBITAK project he worked on regarding induced pluripotent stem cells and cellular therapies has been honored with the Süreyya Tahsin Aygün Award under the auspices of the Turkish Academy of Sciences. In the realm of cancer biology, he investigates cell migration, fibrosis, and associated signaling pathways in the context of the epithelial-mesenchymal transition process. As a result of his studies on the discovery of anticancer and antimetastatic agents, his identified agents have been patented by the Turkish Patent Institute, and international patent processes are ongoing.

    Sebnem Pehlivanoglu (Author)
    Necmettin Erbakan University
    https://orcid.org/0000-0003-0817-0891

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