• Maxillofacial Plastic and Reconstructive Surgery
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• 제42권
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• pp.8.1-8.5
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• 2020

Background: The cause of maxillary growth restriction in patients with cleft lip and palate remains controversial. While studies have investigated the effects surgical technique and timing have on maxillary growth, few focus on patients with isolated cleft palate (ICP). The purpose of this study was to determine the impact palate repair and its associated complications may have on maxillary growth. Methods: A retrospective chart review of ICP patients who underwent palatoplasty from 1962 to 1999 at Akron Children's Hospital was performed. Patient demographics, Veau type, age at primary repair, closure technique, presence of fistula or velopharyngeal insufficiency (VPI), number of palatal operations, maxillary hypoplasia (MH) frequency, and follow-up were recorded. Exclusion criteria included patients with cleft lip, submucous cleft, or syndromes. Results: Twenty-nine non-syndromic ICP patients were identified; 62% (n = 18) had Veau type 1 and 38% (n = 11) had Veau type 2. All patients underwent 2-flap or Furlow palatoplasty with mobilization of mucoperiosteal flaps. Vomerine flaps were used in all Veau 2 cleft palate closures. Palatoplasty was performed at a mean age of 19.9 ± 8.2 months. Average follow-up was 209 ± 66.5 months. The rate of VPI was 59% (n = 17) and the rate of oronasal fistula was 14% (n = 4). Conclusions: There was a low incidence of MH despite complications after initial palate closure. Our results seem to suggest that age at palate closure, type of cleft palate, and type of surgical technique may not be associated with MH. Additionally, subsequent procedures and complications after primary palatoplasty such as VPI and palatal fistula may not restrict maxillary growth.

• 대한두개안면성형외과학회지
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• 제9권1호
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• pp.41-44
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• 2008

Cleft palate and congenital alveolar synechia is a rare syndrome. Only eight cases have been previously reported. It consists of a spectrum of facial anomalies always including cleft palate and congenital alveolar synechiae without other abnormalities. This report described an unusual case of congenital alveolar synechial band spanning posterior alveolar of the two jaws with cleft palate. Previously reported cases showed bilaterally or anteriorly located fibrous band. In our department, a new born revealed unilateral posterior synechia. Under brief intravenous sedation, synechium was divided using bipolar diathermy in the nursery at 3 days of age because of poor feeding. This division allowed full jaw opening after brief passive exercise. The patient is growing and maturing as expected with no complications. This patient is supposed to be the first reported case of isolated unilateral alveolar synechium combined with cleft palate in the worldwide.

• Archives of Plastic Surgery
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• 제33권1호
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• pp.67-74
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• 2006

Palatoplasty using Furlow's double-opposing Z-plasty has been performed from June, 1995 to September, 1999 at Seoul National University Children's Hospital. The goal of this study is to determine the optimal timing of repair and cleft severity affecting velopharyngeal function. This is the retrospective study of patients operated by the second author. The mean age of patients was 10.53 months. The patients could be divided into three groups-isolated cleft palate(n=70), unilateral cleft lip and palate(n=88), and bilateral cleft lip and palate(n=42). To evaluate the velopharyngeal function, we used two parameters, speech evaluation and cineofluorography using DSR(digital subtraction radiography). Also, to determine the relevance between cleft severity and speech development, we measured the distance between maxillary tuberosities and cleft margins. Among 200 patients, about 96% had no or minimal hypernasality and 87% had no or mild nasal emission. The cleft width and length of soft palate seemed not to be related with the speech development. Palatoplasty at the age under 12 months resulted in less 'nasal emission' and better 'articulation' of the parameters that were assessed at the age of 7 years. It can be concluded Furlow palatoplasty shows satisfactory results and also it seems that it is better to perform the operation before the age of 12 months.

• 대한구순구개열학회지
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• 제10권2호
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• pp.81-88
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• 2007

Cleft lip and palate (CLP) is one of the most prevalent congenital craniofacial anomalies. It has a significantly greater incidence of dental abnormalities in number, size, shape, and eruption of the teeth. Knout-out mouse model can identify several genes which play an important role in tooth agenesis. Since disruption of these genes has been confirmed to result in tooth agenesis in humans, CLP associated with hypodontia may be the best models for isolated tooth agenesis. According to the studies of dental abnormalities in CLP, the severity of dental defect is known to be influenced by the CLP phenotype. The cumulative data obtained from mouse and human genetic studies indicated that MSX1, PAX9 and AXIN2 are considered as candidate genes in non-syndromic hypodontia, while Shh, Pitx2, Irf6, p63 and EDA pathway genes are involved in syndromic one. We expect that genetic approach of CLP can offer the basis for tooth regeneration and be a new target in hypodontia therapy.

• 치과방사선
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• 제6권1호
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• pp.45-50
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• 1976

The author observed morphological change in palate development of rat embryo after irradiation of x-ray on the one side of the duplex uterus. The time-matings occured between 6 p.m. and 8 p.m. and all females with copulation plugs at 8 a.m. were isolated and properly marked for evidence of copulation. The lower left abdomen of mothers were exposed to x-radiation on the 7 1/2th, 9 1/2th, 11 1/2th day of gestation, respectively 150, 250, 350, 500rads. At 18 1/2th day of post-conception, the pregnant females were dissected and the contents of the two uteri examined. The translucent sample by Alizarin red S stain were prepared. The results were as follows; 1. The result that groups irradiated by 250rads and 350rads made marked difference in comparison with the control group suggests the x-ray to be a inducing factor of cleft palate. 2. At 11 1/2th day of gestation, incidence of cleft palate induced by x-irradiation was highest. 3. Mortality showed the highest frequency at 7 1/2th day of gestation and tended to decrease in according to increasing of age. 4. Morphology of cleft palate induced by x-irradiation showed similarity in comparison with those induced by other factors having reported ever.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제43권3호
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• pp.171-177
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• 2017

Amniotic constriction band is a rare clinical entity with varied manifestations that range from a combination of congenital malformations to isolated malformations that are unique to each patient. The etiology of this entity remains unknown. Herein, we highlight two cases of amniotic constriction band that presented to our unit with unique clinical characteristics. To the best of our knowledge, an isolated circumferential band of scarring on the face with ocular involvement, as demonstrated by the first case, and a combination of bilateral complete cleft lip and palate with bilateral microphthalmia, auto-amputation of the right thumb, and a constriction band on the left thumb, as demonstrated by the second case, are extremely rare presentations of amniotic constriction band that were not previously reported in the literature and therefore necessitate a special mention. We discuss potential etiologies for these cases and review the existing literature on this entity.

• 대한두개안면성형외과학회지
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• 제24권3호
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• pp.143-144
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• 2023

• 대한두개안면성형외과학회지
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• 제21권2호
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• pp.106-108
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• 2020

Premature fusion of one or other of the minor sutures can subtly influence the shape of the human skull. Although infrequently reported or not clinically recognized, it can such contribute to a variety of craniofacial dysmorphisms. We herein report a case of late presenting, isolated bilateral synostosis of the squamosal suture dysmorphologies whose presentation mimics aspects of sagittal synostosis.

• Journal of Preventive Medicine and Public Health
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• 제42권1호
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• pp.1-4
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• 2009

Objectives : Isolated cleft lip with or without cleft palate(CL/P) is among the most common human birth defects, with a prevalence of approximately 1 in 700 live births. The B-Cell Leukemia/lymphoma 3(BCL3) gene has been suggested as a candidate gene for CL/P based on association and linkage studies in some populations. This study tests for an association between markers in BCL3 and isolated, non-syndromic CL/P using a case-parent trio design, while considering parent-of-origin effects. Methods : Forty case-parent trios were genotyped for two single nucleotide polymorphisms(SNPs) in the BCL3 gene. We performed a transmission disequilibrium test(TDT) on individual SNPs, and the FAMHAP package was used to estimate haplotype frequencies and to test for excess transmission of multi-SNP haplotypes. Results : The odds ratio for transmission of the minor allele, OR(transmission), was significant for SNP rs8100239(OR=3.50, p=0.004) and rs2965169(OR=2.08, p=0.027) when parent-of-origin was not considered. Parentspecific TDT revealed that SNP rs8100239 showed excess maternal transmission. Analysis of haplotypes of rs2965169 and rs8100239 also suggested excess maternal transmission. Conclusions : BCL3 appears to influence risk of CL/P through a parent-of-origin effect with excess maternal transmission.

• Clinical and Experimental Pediatrics
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• 제52권5호
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• pp.603-606
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• 2009

Pierre Robin sequence (PRS)는 소악증, 구개열, 설하수 및 고궁구개 등의 기형을 합병한 선천성 질환으로, 수유 장애 및 호흡 곤란 소견을 보이는 증후군이다. PRS과 관련된 염색체 핵형 분석 결과가 보고되면서, 유전학적 관련성이 제시되어 왔으나, 아직까지 명확히 규명되지 않은 상태이다. 이에 저자들은 PRS 환아에서 처음으로 핵형 46, XX, dup(8)(p21.3p23.1)를 보인 환아를 경험하고, 전염색체탐색자 분석을 통해 중복된 물질이 8번 염색체임을 확인하였으며, PRS와 8번 삼염색체성과의 관련성을 보고하는 바이다.