• 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 the korean academy of Pediatric Dentistry
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• v.29 no.1
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• pp.44-50
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• 2002

Apert syndrome is a kind of congenital-acrocephalosyndactyly syndrome which was first reported by Apert in 1906 and characterized by its acrocephaly and syndactyly. Clinical characteristic features are cone-shaped skull morphology due to early fusion of coronal suture, fusion of fingers of hands and toes of feet. It is an autosomal dominant-heritable syndrome. Due to hypo-development of midface region, Apert syndrome patients have a tendency to have ocular proptosis, hypertelorism, maxillary deficiency. High palate and soft palate cleft are common findings in these patients. In general, mandibular growth pattern is normal, but relative maxillary deficiency exaggerates mandibular forward position, so relative mandibular prognathism is inevitable. Narrow maxillary and mandibular dental arch worsen teeth alignment and crowding. Skeletal malocclusion and open bite are also common. This is a case report of a Korean 3 year 1 month male Apert syndrome child referred by department of plastic surgeon for the possibility of orthodontic treatment. General features of Apert syndrome, patient's medical history, radiographic evaluation, clinical examination, orthodontic and surgical treatment planning are discussed in this report.

• The korean journal of orthodontics
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• v.33 no.6 s.101
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• pp.485-497
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• 2003

The form and function of the craniofacial structure critically depend on genetic information. With recent advances in the molecular technology, genes that are important for normal growth and morphogenesis of the craniofacial skeleton are being rapidly uncovered, shaping up modem craniofacial biology. One of them is fibroblast growth factor receptor 2 (FGFR2). Specific point mutations in the. FGFR2 gene have been linked to Apert syndrome, which is characterized by premature closure of cranial sutures and craniofacial anomalies as well as limb deformities. To study pathogenic mechanisms underlying craniosynostosis phenotype of Apert syndrome, we used a transgenic approach; an FGFR2 minigene construct containing an Apert mutation (a point mutation that substitute proline at the position 253 to arginine; P253R) was introduced into fertilized mouse germ cells by DNA microinjection. The injected cells were then allowed to develop into transgenic mice. We used a bone-specific promoter (a DNA fragment from the type I collagen gene) to confine the expression of mutant FGFR2 gene to the bone tissue, and asked whether expression of mutant FGFR2 in bone is sufficient to cause the craniosynostosis phenotype in mice. Initial characterization of these mice shows prematurely closed cranial sutures with facial deformities expected from Apert patients. We also demonstrate that the transgene produces mutant FGFR2 protein with increased functional activities. Having this useful mouse model, we now can ask questions regarding the role of FGFR2 in normal and abnormal development of cranial bones and sutures.

• Journal of the korean academy of Pediatric Dentistry
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• v.35 no.3
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• pp.539-547
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• 2008

Apert syndrome is an autosomal dominant condition characterized by craniosynostosis, midface hypoplasia, and syndactyly of the hands and feet. It occurs in about 1 of every 65,000 to 160,000 births and is caused by a mutation in the fibroblast growth factor receptor 2(FGFR2) gene. Apert syndrome typically produces acrobrachycephaly(tower skull). The occiput is flattened, and there is a tall appearance to the fore head. Ocular proptosis is a characteristic finding, along with hypertelorism and downward slanting lateral palpebral fissures. The middle third of the face is markedly retruded and hypoplastic, resulting in a relative mandibular prognathism. The reduced size of the nasopharynx and narrowing of the posterior choana can lead to mouth breathing, contributing to an open-mouth apprance. Three fourths of all patients exhibit either a cleft of the soft palate or a bifid uvula. The maxillary hypoplasia leads to a V-shaped arch and crowding of the teeth. A 6-year-old male patient visited to the Department of Pediatric dentistry, Kangnung National University of Dental Hospital. He visited the hospital to get treatment of carious teeth. The purpose of this report is to present a specific dental manifestations about the apert syndrome.