• 대한두개안면성형외과학회지
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• 제9권2호
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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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• 제8권2호
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• pp.130-134
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• 2011

Saethre-Chotzen 증후군은 상염색체 우성의 유전 방식을 보이는 두개골유합증후군(craniosynostosis)의 하나로, 원인 유전자는 TWIST1로 알려져 있다. Saethre-Chotzen 증후군의 임상 증상은 두개골유합증 중에서도 특히 관상봉합(coronal suture)이 편측 혹은 양측으로 조기에 폐쇄되는 것이 특징적이며, 이외에도 안검하수, 낮게 위치한 귀, 청력 소실, 손발가락의 기형 등 다양한 이상이 동반될 수 있다. 저자들은 양측성 관상봉합 두개골유합증과 특징적인 얼굴 모습, 다양한 동반 기형을 보인 두 명의 환자에서 TWIST1 유전자의 원인 돌연변이를 각각 확인하고 Saethre-Chotzen 증후군을 확진하였기에, 국내에서 처음으로 보고하는 바이다. 특히, TWIST1 유전자 분석은 관상봉합 유합증을 보이는 환자에서 질환을 확진하고, 및 환자와 가족에 대한 적절한 유전 상담을 제공하는데 유용한 검사로 생각된다.

• Journal of Korean Neurosurgical Society
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• 제59권3호
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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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• 제30권12호
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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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• 제18권1호
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• pp.69-77
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• 1996

저자등은 중안면 발육부전으로 인한 심미적 및 기능적 장애를 주소로 경희대학교 치과대학 구강악안면외과에 내원한 23세 남자에 대해 관상절개술만을 통하여 두개하 Le Fort III 골절단술을 시행하여 중안면부의 심미성을 증진시키고 안구돌출증의 해소 및 반대교합의 개선등 양호한 결과를 얻었기에 이에 대한 문헌고찰과 함께 보고하는 바이다.