• 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.

• 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.