• Journal of the korean academy of Pediatric Dentistry
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• v.36 no.1
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• pp.133-138
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• 2009

Crouzon syndrome is a rare disease, first decribed by Crouzon in 1912. This syndrome is cuased by mutations in the FGFR2 gene, which is mapped to chromosome locus 10q25-10q26. The condition occurs in about 1 of every 25,000 birth and is inherited as an autosomal dominant trait. We experienced a case of Crouzon's disease in a 9-year-old-female child. Physical examination revealed craniosynostosis, hypertelorism, exophthalmos, hypoplastic maxilla and a relative mandibular prognathism. The purpose of this study is to report the dental and medical characteristics of the patient and review the literatures of Crouzon syndrome.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.30 no.5
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• pp.422-427
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• 2004

Treacher Collins syndrome is inherited as an autosomal dominant trait with variable penetrance. It shows a marked variability even in the same family. This syndrome is developmental defect affecting the branchial arches. It is not usually associated with acute respiratory distress, but has symptoms of microtia, hypoplastic zygomatic bones, hypoplastic mandibular rami, and bilateral coloboma. It usually requires an emergency operation immediately after the birth. We experienced an infant with Treacher Collins syndrome who showed retrognathia, glossoptosis, microtia, and cleft palate. Intermittent cyanosis, depression of the chest, respiratory difficulty associated with airway obstruction, and swallowing difficulty were also observed. To relieve severe upper airway obstruction caused by retrognathia and glossoptosis, we simultaneously performed tongue-lip adhesion and subperiosteal release of the floor of the mouth. The respiratory and swallowing difficulties were relieved and the tongue repositioned anteriorly. We report the present case with a review of the literature.

• Clinical and Experimental Pediatrics
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• v.56 no.8
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• pp.355-358
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• 2013

Kabuki syndrome (KS) is a rare genetic disease with a distinctive dysmorphic face, intellectual disability, and multiple congenital abnormalities. KS is inherited in an autosomal dominant manner. As the primary cause of KS, MLL2 mutations have been identified in 56-76% of affected individuals who have been tested, suggesting that there may be additional genes associated with KS. Recently, a few KS individuals have been found to have de novo partial or complete deletions of an X chromosome gene, KDM6A, which encodes a histone demethylase that interacts with MLL2. Nevertheless, mutations in MLL2 are the major cause of KS. Although there are a few reports of KS patients in Korea, none of these had been confirmed by genetic analysis. Here, we report a case of a Korean patient with clinical features of KS. Using direct sequencing, we identified a frameshift heterozygous mutation for MLL2 : (c.5256_5257delGA;p.Lys1753Alafs$^*34$). Clinically, the patient presented with typical facial features, and diagnosis of KS was based on the diagnostic criteria. While KS is a rare disease, other malformations that overlap with those found in individuals with KS are common. Hence, the diagnosis of KS by mutational analysis can be a valuable method for patients with KS-like syndromes. Furthermore, in the near future, other genes could be identified in patients with KS without a detectable MLL2 mutation.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.16
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• pp.6945-6948
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• 2014

Background: Familial adenomatous polyposis (FAP) is a disease inherited in an autosomal dominant fashion. Most FAP patients develop upper gastrointestinal polyps; especially those in the antrum and duodenum are usually neoplastic. The aim of this study was to evaluate the prevalence of gastroduodenal polyps in Iranian FAP patients. Materials and Methods: 28 patients affected by FAP underwent front-view and side-view endoscopy. Papillary biopsies were performed in all patients. Location of polyps, their number and size, pathology study, patient general information (gender, age, family history of FAP or colorectal cancer and gastroduodenal polyps) were analyzed. Results: Gastric polyps were seen in 39.3 % of patients. Some 72.7% of the affected individuals had fundic gland polyps and 36.36% had hyperplastic polyps. Duodenal adenoma was observed in 25% of patients. While 57% of patients had tubular adenoma with low grade dysplasia, 42.8% showed tubulovillous adenoma with low grade dysplasia. Conclusions: Findings of this study indicated that the prevalence of gastroduodenal polyps in FAP patients is high and dysplasia may be evident in duodenal polyps. Therefore, it appears that routine gastroduodenal endoscopy in FAP patients is necessary.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.36 no.1
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• pp.7-12
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• 2014

Nevoid basal cell carcinoma syndrome (NBCCS) is inherited as an autosomal dominant trait with variable conditions, including multiple basal cell carcinoma, numerous keratocystic odontogenic tumors (KOTs) in the jaws, ectopic calcification of the falx cerebri, bifid ribs, macrocephaly, kyphoscoliosis, cleft palate, frontal and temporal bossing, mild ocular hypertelorism, mild mandibular prognathism, vertebral fusion, and so on. A 16-year-old boy visited the Dong-A University Medical Center, requiring diagnosis and treatment of multiple cystic lesions. He presented with many conditions related to NBCCS, including multiple KOTs, bifid rib, cleft lip, frontal bossing, mild ocular hypertelorism, and mild mandibular prognathism. No characteristic cutaneous manifestations (nevoid basal cell carcinoma) were observed in this patient. We report on a case of multiple KOTs associated with NBCCS with a review of the literature.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.8 no.1
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• pp.76-80
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• 2005

Peutz-Jeghers syndrome is an autosomal dominant inherited syndrome characterized by mucocutaneous pigmentation and gastrointestinal hamartomatous polyps. The most important complications that increase morbidity are intussusception, bleeding and obstruction. Most patients with Peutz-Jeghers syndrome may undergo multiple laparotomies for complications such as intussusception or bleeding every 2 to 3 years during adolescence and early adulthood. To decrease the relaparotomy rate, intraoperative endoscopy may be useful in the treatment of complications that are related to Peutz-Jeghers syndrome. Use of intraoperative endoscopy can lead to a healthier life and to a longer life expectancy for the patient. We describe a case of Peutz-Jeghers syndrome, who underwent polypectomy by total gut endoscopy in an 11-year-old girl presented with intestinal obstruction and anemia. During the course of the operation, the endoscope was inserted per the enterostomy and colostomy sites, and 16 polyps in the small and large intestine were removed endoscopically using a snare.

• Journal of Genetic Medicine
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• v.12 no.1
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• pp.44-48
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• 2015

Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the classic triad of congenital anomalies of the anus, thumbs, and ears, with variable expressivity. Additionally, renal malformations, cardiac anomalies, and endocrine and eye abnormalities can accompany TBS, although less frequently. TBS is inherited in an autosomal dominant fashion; however, about 50% of patients have a family history of TBS and the remaining 50% have de novo mutations. SALL1, located on chromosome 16q12.1, is the only causative gene of TBS. SALL1 acts as a transcription factor and may play an important role in inducing the anomalies during embryogenesis. Clinical features of TBS overlap with those of other multiple anomaly syndromes, such as VACTERL syndrome, Baller-Gerold syndrome, Goldenhar syndrome, cat eye syndrome, and Holt-Oram syndrome. Consequently, there are some difficulties in differential diagnosis based on clinical manifestations. Herein, we report a Korean family with two generations of TBS that was diagnosed based on physical examination findings and medical history. Although the same mutation in SALL1 was identified in both the mother and the son, they displayed different clinical manifestations, suggesting a phenotypic diversity of TBS.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.7 no.2
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• pp.123-126
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• 2011

Noonan syndrome (NS) is a developmental disorder characterized by dysmorphic facial features in association with short stature, mental retardation and congenital heart disease. NS may be sporadic or inherited as an autosomal dominant or recessive trait. The children with NS usually have ocular hypertelorism, downslanting palpebral fissures, low-set ears and a webbed neck, chest deformity. In addition, oral features include micrognathia, high arched palate, dental malocclusion, dental anomalies and rarely, cleft palate. The phenotype of NS bears similarities to that of Turner syndrome. However, NS occurs in both males and females with a normal sex chromosome 46, XX and 46, XY constitution. This case presents the intermittent treatment of an 8-year-old girl who was referred from a local clinic for the extraction of supernumerary teeth and treatment of dental caries. The focus of this case report is the oral aspects on NS and particularities of the dental treatment in subjects affected by this genetic disease.

• Journal of the korean academy of Pediatric Dentistry
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• v.25 no.3
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• pp.555-561
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• 1998

Hypophosphatasia is a rare metabolic disorder which manifests characteristics such as abnormal mineralization of bone and dental tissues, diminished serum and tissue alkaline phosphatase, and increased urinary secretion of PEA. It inherited as an autosomal recessive or dominant trait and occurs in all races. In general, hypophosphatasia can be classified in 4 subtypes which are the perinatal, infantile, childhood, adult type depending upon the age at presentation and severity. In young children with Hypophosphatasia the long bones show irregular defects, and the skull showes poor calcification. In older children with premature closure of the skull sutures there may be multiple lucent area called gyral or convolutional markings, described as resembling beaten copper, presumably resulting from increased intracranial pressure. Examination of the jaws reveals a generalized lucency of the maxilla and mandible. the cortical bone and lamina dura are thin, and the alveolar bone may be deficient. Clinical features of Hypophosphatasia include premature loss of deciduous teeth, especially incisors, hypoplasia or aplasia of root cementum, enamel hypoplasia, irregular calcification of dentin, large pulp chamber, and resorption of marginal alveolar bone and roots. Our report involves a patient with a chief complaint of early loss of both Mx. and Mn. deciduous incisors. After conducting a through clinical and radiographic examination this patient was referred to pediatrics under the suspicion of hypophosphatasia, the diagnosis proved to be correct and successful results were accomplished through a denture made to improve esthetics and function.

• Journal of Yeungnam Medical Science
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• v.6 no.1
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• pp.179-184
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• 1989

The Marfans syndrome is a generalized connective tissue disease involving eye, musculoskeletal system, cardiovascular system, and inherited autosomal dominant with various expression type. The cardiovascular complications such as aortic aneurysm, aortic dissection, aortic regurgitation, mitral regurgitation and aortic dissection which usually occurs in previously normal sized aorta are poor prognostic factors. However, the aortic dissection which developed in patient with Marfan syndrome and aortic aneurysm was rare. We experienced one case of dissecting aneurysm in patient diagnosed as previous aoritc aneurysm, aortic regurgitation, and Marfan syndrome, receiving successful operation.