• Archives of Craniofacial Surgery
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• v.9 no.2
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• pp.85-89
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• 2008

Purpose: Unicoronal synostosis is the craniofacial anomaly caused by premature fusion of unilateral coronal suture. Ipsilateral flattening of the frontal and parietal bones, temporal retrusion with elevation and recession of the supraorbital rim are main clinical features. Compensatory contralateral frontal bossing and deviation of the nasal root and/or chin can also occur. There is a controversy about techniques for surgical correction, however, bilateral approach technique is more effective for correction of deformity. Methods: A 4-year-old patient with unicoronal synostosis had undergone unilateral suturectomy at 28-month-old but fronto-facial deformity had remained and aggravated as she grew older. She had both fronto-facial and endocranial asymmetry. We performed coronal cranial approach and fully exposed affected cranium including supraorbital rim. Anterior 2/3 calvarial reconstruction with bilateral frontal bone osteotomy and fronto-orbital bandeau advancement was performed. Results: Fronto-facial symmetry including fronto-orbital contour, nasal devation was improved. Endocranial twisting was also improved from $158^{\circ}$ to $162^{\circ}$ in CSO(crista gallisella turcica-opisthion) degree. There was no postoperative complications and no need for revision, and facial asymmetry improved at the period of 2 years of follow-up. Conclusion: Bilateral approach with fronto-orbital bandeau remodeling in surgery of unicoronal synostosis looked superior to unilateral approach in achieving better symmetry and preventing recurrence of asymmetry. Remodeling surgery should be tried in patients even at an older age to correct fronto-facial asymmetry.

• Journal of Genetic Medicine
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• v.8 no.2
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• pp.130-134
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• 2011

Saethre-Chotzen syndrome is an autosomal dominant craniosynostosis syndrome, usually involving unior bilateral coronal synostosis and mild limb deformities, and is induced by loss-of-function mutations of the TWIST1 gene. Other clinical features of this syndrome include ptosis, low-set ears, hearing loss, hypertelorism, broad great toes, clinodactyly, and syndactyly. The authors of the present study report 2 children with clinical features of Saethre-Chotzen syndrome who showed mutations in the TWIST1 gene, and is the first molecular genetic confirmation of Saethre-Chotzen syndrome in Korea. The molecular genetic testing of the TWIST1 gene for patients with coronal synostoses is important to confirm the diagnosis and to provide adequate genetic counseling.

• Journal of Korean Neurosurgical Society
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• v.59 no.3
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• pp.187-191
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• 2016

Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis.

• Journal of Korean Neurosurgical Society
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• v.30 no.12
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• pp.1417-1421
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• 2001

Objective : The purposes of this study are to compare imaging features with operative findings and to determine significance of imaging studies for early detection of craniosynostosis(CS). Methods : Plain radiograph of skull and three-dimensional(3D) CT reconstruction were analyzed in 10 consecutive patients with CS to assess the presence and the extent of synostosis. The radiological findings were investigated and compared with operative findings. Results : The locations of lesion were coronal suture in 6, sagittal suture in 3 and multiple sutures in one patient, and the age ranged 1 to 53 months(mean age : 17.4 months). Reconstructive procedures with or without advancement of supraorbital rim were performed in coronal CS patients and ${\pi}$-procedures or synostectomy were done in sagittal CS patients. Radi-ological abnormalities such as sutural indistinctness or sclerosis, bony ridge, bossing and other bony deformities were nearly consistent with surgical findings. Conclusion : The interpretation of imaging study are very important for early detection of craniosynostosis, especially, the plain radiographs of skull. Also 3D CT imaging is helpful in diagnosis and surgical planing of craniosynostosis. There are no significant differences between imaging features and operative findings in CS patients.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.18 no.1
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• pp.69-77
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• 1996

The midfacial deficiency is usually accompanied with congenital craniofacial synostosis, such as Crouzon, Apert, Pfeiffer, Carpenter, Saethre-Chotzen syndrome, and so on. But sometimes isolated midfacial deficiency without cranial malformations may appeared, the cause of which is congenital, hereditary, or secondary to developmental factors, such as infection and trauma to middle face. Since Sir Harold Gillies reposted the first high maxillary osteotomy that alleviated the problems of total midfacial deficiency, the various operative methods were developed by many clinicians, such as Longacre and Tessier. These procedures can enlarge the orbital volume and decreases exorbitism. As middle face was moved forward, these functional, esthetic, and psychologic advantages were resulted from this. This is a case of midfacial deficiency corrected by the subcranial Le Fort Ⅲ osteotomy through only coronal approach.