• Journal of Genetic Medicine
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• 제10권2호
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• pp.109-112
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• 2013

Treacher Collins syndrome (TCS) is the most common and well known mandibulofacial dysostosis with characteristic clinical features including downward slanting of palpebral fissures, coloboma of the lower eyelid, hypoplastic zygomatic arches, micrognathia, macrostomia, microtia, and other deformities of the ears. TCS is caused by mutations in at least 3 genes involved in pre-rRNA transcription: TCOF1, POLR1D and POLR1C. We experienced a 1-day-old female infant with characteristic clinical features of TCS. A novel, heterozygotic mutation within the TCOF1 gene (c.3874_3875insG, p.Ala1292Glyfs*30) was identified to cause a premature stop codon.

• Archives of Plastic Surgery
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• 제32권1호
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• pp.60-66
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• 2005

Total auricular reconstruction with autogenous tissue remains one of the greatest technical challenges for reconstructive plastic surgeons because of the ear's complex morphology with delicately convoluted cartilages and very thin skin. In a successfully created ear, a natural three-dimensional illusion visualized from the patient's profile, frontal, and posterior views is crucial. Accordingly ear framework should have adequate lateral aspect as well as suitable frontal aspect even before being lifted to this purpose. For this goal, rib cartilage should be harvested from three-dimensionally adequate area. It is the most essential point in framework fabrication that the baseblock should have semi-cup curvature via multiple parallel cuts made on its medial surface. Between January 1999 and May 2003, we performed 29 cases of total ear reconstruction with autogenous rib cartilage graft using this scoring technique and obtained satisfactory results, which showed more natural appearance visualized from the patient's profile, frontal, and posterior views.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.10-13
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• 2016

Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported. In this report, we describe a 1-year-old girl presenting with ptosis of the left upper eyelid, right auricular deformity, high-arched palate, delayed dentition, simian line on the right hand, microcephaly, and developmental delay. In this patient, we identified a deletion in the chromosome 11q13.2-q13.3 (2.75 Mb) region by using an array-comparative genomic hybridization analysis. The deletion in chromosome 11q13 results in a syndrome characterized by variable clinical manifestations. Some of these manifestations involve craniofacial dysmorphology and require a functional workup for hearing, ophthalmic examinations, and long-term dental care.

• Archives of Plastic Surgery
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• 제32권4호
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• pp.511-515
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• 2005

Autologous cartilage grafts have become an integral part of aesthetic and reconstructive plastic surgery. However, little objective information is available about the actual quantitative resorption of cartilage in human. This study sought to objectively quantify and compare the resorption of costal cartilage in human. To compare the resorption characteristics of rib cartilage autografts, we harvested rib cartilage grafts from 37 microtia patients. All autografts were implanted subcutaneously on chest and then removed after 6 to 17 months. Graft mass and volume were compared before and after implantion. Rib cartilage grafts with perichondrium averaged $10.8{\pm}7.4%$ resorption by volume, On the other hand rib cartilage grafts without perichondrium $25.5{\pm}6.8%$. There was no evidence of necrosis or inflammatory changes. The rib cartilage is the preferred source of autogenous cartilage for auricular reconstruction. Short-term resorption of rib cartilage without perichondrium appears to be higher than with perichondrium. The low resorption of cartilage with perichondrium may be due to in part to cartilage forming capacity of the perichondrium. It remains to be seen whether these differences in resorption persist in the long term.

• 대한두개안면성형외과학회지
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• 제21권4호
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• pp.225-228
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• 2020

Background: The aim of this study is to develop a two-stage training module using radish and swine scapular cartilage for carving ear cartilage. Methods: In the first stage, white radish was cut in 3-6 mm thick slices. The ear cartilage framework was carved using a graver and the helix and antihelix were fixed with pins. In the second stage, swine scapular cartilage was obtained. The thickness varied 3-6 mm. The ear cartilage framework was made. And triangular fossa and scaphoid fossa were carved with graver. A curvilinear cartilage for helix was assembled to the framework by pin fixing. Six participants were recruited for an ear reconstruction training workshop and figures of the cartilage framework were provided. Participants were asked answer the pre-workshop questionnaire and post-workshop questionnaire on a Likert scale to rate their satisfaction with the outcome. Results: On the pre-workshop questionnaire, participants indicated that they did not have sufficient knowledge and skill for fabricating the ear cartilage framework (1.5±0.5 using white radish; 1.3±0.5 using swine scapular cartilage). On the post-workshop questionnaire, participants responded that they had learned useful knowledge from this workshop, reflecting a significant improvement (3.8±1.0 using white radish; 4.0±1.1 using swine scapular cartilage). They also indicated that they had become somewhat confident in this skill (4.2±0.8 using white radish; 4.3±0.5 using swine scapular cartilage. The participants generally found the workshop satisfactory (practically helpful, 4.7±0.5; knowledge improved, 4.8±0.4; satisfied with course, 4.5±0.5; would recommend to others, 4.8±0.4). Conclusion: This model can be useful for ear reconstruction training for medical personnel.

• Archives of Plastic Surgery
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• 제40권3호
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• pp.192-197
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• 2013

Background To construct a sophisticated three-dimensional framework, numerous modifications have been reported in the literature. However, most surgeons have paid little attention to the anatomical configuration of the concha and more to its deepness and hollowness, leading to unsatisfactory outcomes. Methods For a configuration of the concha that is definitely anatomical, the author further developed and employed the conchal bowl element, which has been used by several surgeons although the results have not been published elsewhere. The author constructed the conchal bowl element in one of three patterns according to the amount of available cartilages: one block, two-pieces, or a cymba bowl element only. A total of 20 patients underwent auricular reconstruction using a costal cartilage framework between 2009 and 2012. The 8 earliest reconstructions were performed without a conchal bowl element and the latter 12 with a conchal bowl element. The patients were followed up for more than 1 year. The aesthetic results were scored by evaluating characteristics involving the stability of the crus helicis, the conchal definition, and the smoothness of the helical curve. Results The ears reconstructed early without a conchal bowl element showed a shallow and one or two incompletely separated concha with an obliterated cymba conchal space. They also did not have a realistic or smooth curve of the helix because of an unstable crus helicis. However, ears reconstructed later with the concha bowl element showed a definite crus helicis, deep cymba conchal space, and smooth helical curve. Conclusions The construction of the conchal bowl element is simple, not time-consuming procedure. It is suggested that the conchal bowl element must be constructed and attached to the main framework for natural configuration of the reconstructed ear.

• Journal of Oral Medicine and Pain
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• 제40권3호
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• pp.110-114
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• 2015

Purpose: Growth and differentiation factor (GDF)-11 is a transforming growth factor-${\beta}$ family member that plays important regulatory roles in development of multiple tissues which include axial skeletal patterning, palatal closure, and tooth formation. Proteins that have been identified as GDF-11 inhibitors include GDF-associated serum protein (GASP)-1 and GASP-2. Recently, we found that mice genetically engineered to lack both Gasp1 and Gdf11 have an increased frequency of cleft palate. The goal of this study was to investigate the roles of GDF-11 and its inhibitors, GASP-1 and GASP-2, during dental and craniofacial development and growth. Methods: Mouse genetic studies were used in this study. Homozygous knockout mice for Gasp1 ($Gasp1^{-/-}$) and Gasp2 ($Gasp2^{-/-}$) were viable and fertile, but Gdf11 homozygous knockout ($Gdf11^{-/-}$) mice died within 24 hours after birth. The effect of either Gasp1 or Gasp2 deletion in $Gdf11^{-/-}$ mice during embryogenesis was evaluated in $Gasp1^{-/-}$;$Gdf11^{-/-}$ and $Gasp2^{-/-}$;$Gdf11^{-/-}$ mouse embryos at 18.5 days post-coitum (E18.5). For the analysis of adult tissues, we used $Gasp1^{-/-}$;$Gdf11^{+/-}$ and $Gasp2^{-/-}$;$Gdf11^{+/-}$ mice to evaluate the potential haploinsufficiency of Gdf11 in $Gasp1^{-/-}$ and $Gasp2^{-/-}$ mice. Results: Although Gasp2 expression decreased after E10.5, Gasp1 expression was readily detected in various ectodermal tissues at E17.5, including hair follicles, epithelium in nasal cavity, retina, and developing tooth buds. Interestingly, $Gasp1^{-/-}$;$Gdf11^{-/-}$ mice had abnormal formation of lower incisors: tooth buds for lower incisors were under-developed or missing. Although $Gdf11^{+/-}$ mice were viable and had mild transformations of the axial skeleton, no specific defects in the craniofacial development have been observed in $Gdf11^{+/-}$ mice. However, loss of Gasp1 in $Gdf11^{+/-}$ mice occasionally resulted in small and abnormally shaped auricles. Conclusions: These findings suggest that both GASP-1 and GDF-11 play important roles in dental and craniofacial development both during embryogenesis and in adult tissues.

• 대한소아치과학회지
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• 제41권1호
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• pp.40-46
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• 2014

Treacher collins 증후군(TCS)는 25,000명에서 50,000명당 1명의 빈도로 발생하는 상염색체우성의 유전질환이다. 상, 하악의 발육 부전, 부정교합, 양측성 이개 기형, 안검렬의 반몽고증 사면, 구순구개열, 외이도 폐쇄, 중이와 내이의 기형으로 인한 청각 소실등의 구강악안면 부위의 특징을 보여 태생 이후 성인기에 이르기까지 여러 차례에 걸친 외과적 수술을 거치게 된다. 하악골의 형성저하로 하악골이 짧고 후방 위치되며 후방 위치하는 혀와 후비공의 협착과 폐쇄로 인해 상기도가 좁아지게 되는데 이로 인해 기관삽관의 어려움이 따른다. 따라서 치근 발육이 미약한 소아청소년 시기의 TCS 환자의 기관 삽관 시 상악 전치부의 손상 가능성이 매우 높다. 본 증례는 전신마취 유도를 위한 기관 삽관 도중 상악 전치의 완전 탈구가 발생한 TCS 환아의 치험례를 통해 기도 삽관 시사전의 마우스가드 제작의 유용성에 대하여 알리고자 한다.

• 대한장애인치과학회지
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• 제15권1호
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• pp.79-83
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• 2019

Treacher Collins 증후군(TCS)은 두개안면 발육의 이상을 보이는 상염색체 우성 질환으로, 외이, 중이 및 이소골(auditory ossicle)의 형태이상과 상악골 발육 부전, 후퇴된 하악, 구개열 등의 특징을 보인다. TCS 환아의 경우, 청각 장애로 인한 환아의 불안으로 적절한 협조를 얻기 어렵고, 개구제한과 기도 확보의 어려움으로 인해 전신마취 하에 치과치료를 진행하는 것이 안전하다. 전신마취 시 하악 후퇴 등의 형태학적인 문제로 인하여 삽관의 난이도가 높을 수 있어 주의가 요구되며, 술 후에도 적절한 호흡의 유지를 위해 지속적인 감시가 필요하다. 마지막으로, 보호자로 하여금 구강 위생의 중요성이 강조되어야 한다.