• Archives of Plastic Surgery
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• 제44권3호
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• pp.217-222
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• 2017

Background The prevalence of flap necrosis after palatoplasty in patients with cleft palate. The prevalence of mucoperiosteal flap necrosis after palatoplasty remains unknown, and this complication is rare. This event is highly undesirable for both the patient and the surgeon. We present here a new scale to evaluate the degree of hypoplasia of the palate and identify patients with cleft palate at high risk for the development of this complication. Methods In this case series, a 20-year retrospective analysis (1994-2014) identified patients from our records (medical records and screening day registries) with nonsyndromic cleft palate who underwent operations at 3 centers. All of these patients underwent operations using 2-flap palatoplasty and also underwent a physical examination with photographs and documentation of the presence of palatal flap necrosis after primary palatoplasty. Results Palatal flap necrosis was observed in 4 cases out of 1,174 palatoplasties performed at these centers. The observed prevalence of palatal flap necrosis in these groups was 0.34%. Conclusions The prevalence of flap necrosis can be reduced by careful preoperative planning, and prevention is possible. The scale proposed here may help to prevent this complication; however, further studies are necessary to validate its utility.

• 대한치과교정학회지
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• 제43권5호
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• pp.248-260
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• 2013

Cleidocranial dysplasia (CCD), an autosomal dominant disorder with a prevalence of 1 in 1,000,000 individuals, is mainly caused by mutations in Runx2, a gene required for osteoblastic differentiation. It is generally characterized by hypoplastic clavicles, narrow thorax, and delayed or absent fontanel closure. Importantly, its orofacial manifestations, including midfacial hypoplasia, retained primary teeth, and impacted permanent and supernumerary teeth, severely impede the well-being of affected individuals. Successful treatment of the orofacial problems requires the combined efforts of dental specialists. However, only a few successfully treated cases have been reported because of the rarity of CCD and complexity of the treatment. This article presents the University of California, San Francisco (UCSF) treatment protocol for the dentofacial manifestations of CCD based on two treated and 17 diagnosed cases. The records of two patients with CCD who had been treated at the UCSF School of Dentistry and the treatment options reported in the literature were reviewed. The UCSF treatment protocol produced a successful case and a partially successful one (inadequate oral hygiene in the retention stage resulted in decay and loss of teeth). It provides general guidelines for successfully treating the orofacial manifestations of CCD.

• 대한장애인치과학회지
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• 제7권2호
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• pp.119-122
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• 2011

연골무형성증 환아는 작은 키, 짧은 사지, 척추 측만, 아데노이드와 편도 비대 등의 특징적인 소견으로 인해 치과치료시 많은 주의를 요한다. 대부분의 환자들이 구호흡을 하기 때문에 치과 시술시 호흡이 어려우며, 척추 이상으로 인해 체어에 오래 누워있기 힘든 경우가 많아 이번 증례와 같이 다발성 우식증을 치료하기 위해서는 전신마취 하 시술이 필요한 경우도 있다. 연골무형성증 환아의 치과 진료시에는 타과와의 긴밀한 협조 하에 이러한 전신적인 특징을 이해하고 접근해야 할 것이다.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제33권5호
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• pp.559-566
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• 2007

Distraction osteogenesis(DO) is a surgical method of bone formation that involves an osteotomy and sequential stretching of the healing callus by gradual movement and subsequent remodeling. DO is used to correct facial asymmetry, such as in patients with hemifacial microsomia, maxillary or mandibular retrusion, cleft lip and palate, alveolar defects, and craniofacial deficiency. It is accomplished with the aid of a distraction device, which is secured with screws placed directly into bone, for a predetermined length of time. Hemifacial microsomia is characterized by unilateral facial hypoplasia, often with unilateral shortening of the mandible and subsequent malocclusion. Patients with hemifacial microsomia and facial asymmetry have a vertically short maxilla, tilted occlusal plane, and short mandible. Early treatment is necessary to avoid subsequent impaired midfacial growth. The standard treatment of these malformations consists of the application of bone grafts, which can lead to unpredictable growth. The new bone-lengthening procedure represents a limited surgical intervention and opens up a new perspective for treatment, especially in younger children with severe deformities. This report describes a case of hemifacial microsomia(Type-II left-sided hemifacial microsomia). The patient, a 10-year-old child, visited our clinic for facial asymmetry correction. He had a hypoplastic mandible, displaced ear lobe, 10 mm canting on the right side, and malocclusion. We planned DO to lengthen the left mandible in conjunction with a Le Fort I osteotomy for decanting and then perform a right intraoral vertical ramus osteotomy(IVRO). Progressive distraction at a rate of 0.5 mm/12 hours was initiated 7 days postoperatively. The duration of DO was 17 days. The consolidation period was 3 months. Satisfactory results were obtained in our case, indicating that DO can be used successfully for functional, aesthetic reconstruction of the mandible. We report a case involving DO in conjunction with orthognathic surgery for correcting mandibular hypoplasia with a review of the literature.

• 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.

• Toxicological Research
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• 제22권2호
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• pp.127-133
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• 2006

Recently, we have reported that the environmental pollutant 2-bromopropane (2-BP) induces a significant embryo-fetal developmental toxicity in rats. However, the cause of developmental toxicity and the relationship between maternal and developmental toxicities could not be elucidated because the developmental toxicity of 2-BP was observed only in the presence of maternal toxicity The in vitro teratogenicity study using whole embryo culture was carried out to understand the teratogenic properties and the possible mechanism of teratogenicity induced by 2-BP in rats. Rat embryos aged 9.5 days were cultured in vitro for 48 hrs at medium concentrations of 0, 1, 3, or 10 mg/ml of 2-BP. Embryos were evaluated for growth, differentiation, and morphological alterations at the end of the culture period. At 10 mg/ml, 2-BP caused a delay in the growth and differentiation of embryos and an increase in the incidence of morphological alterations, including altered yolk sac circulation, abnormal axial rotation, craniofacial hypoplasia, open neuropore, absent optic vesicle and kinked somites. At 3 mg/ml, only a delay in the growth and differentiation of embryos was observed. There were no adverse effects on embryonic growth and development at the concentration of 1 mg/ml. The results showed that the exposure of 2-BP to rat embryos results in a developmental delay and morphological alterations at dose levels of 3 mg/ml culture media or higher and that 2-BP can induce a direct developmental toxicity in rat embryos.

• Clinical and Experimental Pediatrics
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• 제59권1호
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• pp.16-23
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• 2016

Purpose: The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the 1p36 deletion syndrome. Methods: The clinical characteristics of the 5 patients were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were performed for genetic diagnoses. Results: All 5 patients had typical dysmorphic features including frontal bossing, flat right parietal bone, low-set ears, straight eyebrows, down-slanting palpebral fissure, hypotelorism, flat nasal roots, midface hypoplasia, pointed chins, small lips, and variable degrees of developmental delay. Each patient had multiple and variable anomalies such as a congenital heart defect including ventricular septal defect, atrial septal defect, and patent duct arteriosus, ventriculomegaly, cryptorchism, or hearing loss. Karyotyping revealed the 1p36 deletion in only 1 patient, although it was confirmed in all 5 patients by MLPA analyses. Conclusion: All the patients had the typical features of 1p36 deletion. These hallmarks can be used to identify other patients with this condition in their early years in order to provide more appropriate care.

• Journal of Genetic Medicine
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• 제13권1호
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• pp.31-35
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• 2016

Antley-Bixler syndrome (ABS) is a rare form of syndromic craniosynostosis with additional systemic synostosis, including radiohumeral or radioulnar synostosis. Another characteristic feature of ABS is mid-facial hypoplasia that leads to airway narrowing after birth. ABS is associated with mutations in the FGFR2 and POR genes. Patients with POR mutations present with either skeletal manifestations or congenital adrenal hyperplasia with ambiguous genitalia. We report here two cases of ABS caused by mutations in FGFR2 and POR. Although the patients had craniosynostosis and radiohumeral synostosis in common and cranioplasty was performed in both cases, the male with POR mutations showed an elevated level of $17{\alpha}$-hydroxyprogesterone during newborn screening and was diagnosed with congenital adrenal hyperplasia by adrenocorticotropic hormone stimulation. This patient has been treated with hydrocortisone and fludrocortisone. He had no ambiguous genitalia but had bilateral cryptorchidism. On the other hand, the female with the FGFR2 mutation showed severe clinical manifestations: upper airway narrowing leading to tracheostomy, kyphosis of the cervical spine, and coccyx deformity. ABS shows locus heterogeneity, and mutations in two different genes can cause similar craniofacial and skeletal phenotypes. Because the long-term outcomes and inheritance patterns of the disease differ markedly, depending on the causative mutation, early molecular genetic testing is helpful.

• 대한치과교정학회지
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• 제30권1호
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• pp.43-52
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• 2000

반안면 왜소증 (Hemifacial microsomia) 은 선천성 악안면기형 중 발생빈도가 두 번째로 높은 질환으로서, 상, 하악골 뿐만이 아니라 외이나 중이, 두개의 일부, 협부 연조직, 안면신경, 근육 등의 복합적인 부위를 침범하는 광범위한 선천성 기형으로서, 환자에 따라 그 정도의 차이는 있으나 성장에 따라 교합면 경사와 함께 이환 측으로 안면 비대칭의 정도가 점점 심화되는 특징을 가진다. 반안면 왜소증에서 치아와 관련된 증상으로는 치아 성숙도의 차이, 치아 수의 감소, 맹출지 연, 법랑질 저형성증 등이 보고된 바 있다. 치아는 악골의 크기나 형태와 밀접한 연관을 가지고 발육하기 때문에, 반안면 왜소증 환자의 경우 치아 발육에서 변화가 발생되기 쉬울 것으로 생각된다. 이에 저자들은 한국인 편측성 반안면 왜소증 환자의 이환 측과 비이환 측에서 상, 하악 유치와 영구치의 크기와 형태 차이 여부를 조사하기 위하여 본 연구를 시행하였다. 서울대학교병원 교정과에 내원하였던 편측성 반안면 왜소증 환자 34명 (남자 18명, 여자 15명, 초진시 평균연령 5세 11개월)을 연구대상으로 선정하였다. 이들의 각 치아별 근원심과 협설측 폭경 을 계측한 후, 평균 및 표준편차를 계산하고 paired t-test로 통계 처리하여 다음과 같은 결과를 얻었다. 1. 상, 하악 유치와 영구치의 이환 측과 비이환 측의 근원심 폭경 비교에서 이환 측의 하악 제 2 유구치와 하악 제1 영구 대구치가 비이환 측에 비하여 작게 나타났으며 통계학적 유의차를 보였다. 이것은 하악 전치부와 제 1유구치의 근원심 폭경에서 통계학적으로 유의성있는 차이를 보이지 않았음과 연관지어볼 때, 이환측 하악의 최후방 구치에서 근원심 폭경 감소의 경향 (gradient of severity)이 크다고 할 수 있다. 2. 상, 하악 유치와 영구치의 이환 측과 비이환 측의 협설측 폭경 비교에서 모든 치아에서 통계학적 유의차를 볼 수 없었지만, 이환 측의 하악 유치와 영구치의 협설측 폭경이 비이환 측에 비하여 보상적으로 다소 큰 값을 나타내는 경향이 있었다. 본 연구는 반안면 왜소증에 의하여 영향을 받은 하악골의 이한측 치아, 특히 최후방 구치, 의 크기와 형태 이상이 발생될 가능성이 있다는 것을 보여주었다.

• 대한장애인치과학회지
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• 제8권2호
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• pp.113-117
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• 2012

저자는 ARS를 가진 15세 여자 환아에 대한 임상적, 방사선학적 관찰을 통해 다음과 같은 지견을 얻었다. 1. 환아는 Axenfeld-Rieger Syndrome의 안과적 증상인 전안부 형성부전을 나타낸다. 2. 환아의 구강 및 구개악안면 소견으로 다수의 영구치 결손 및 왜소치, 상악 형성 부전, 구치부의 반대교합이 관찰되었다. 3. 환아의 성장에 따른 주기적인 치과적 검진과 추가적인 치료가 필요할 것으로 생각된다.