• Maxillofacial Plastic and Reconstructive Surgery
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• 제28권3호
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• pp.222-228
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• 2006

Various methods have been used in the past to indirectly analyze the craniofacial region. Among these, the lateral and posterior-anterior cephalometircs are used for the evaluation of the dentofacial deformities. However, cephalometircs create inaccuracies because of the inherent enlargement and distortion of the image. The interpretation of cephalometric films is also problematic: the number of anatomic landmarks that can be identified accurately is limited, and the overlap of structures on a radiograph making locating these landmarks difficult. To overcome these problems, computed tomography(CT) has been recommended as an useful modality in the diagnosis, surgical planning, and follow-up of craniofacial anomalies. There is no significant enlargement or distortion of the image, overlap of structure, or tracing error. And the number of anatomic landmarks is vast. The purpose of this study was to examine the orbit and midfacial region using Occlusal Maxillary CT, consisted of slices parallel to the occlusal plane. Based on these CT scan, we provide the data that could be applied to monitor an individual patient's skeletal pattern and the guide to the maxillary osteotomy.

• 대한소아치과학회지
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• 제30권4호
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• pp.667-672
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• 2003

Rieger syndrome은 눈의 전안방 기형과 치아결손을 특징으로 하는 희귀한 유전질환으로 두개안면 이상과 체성기형을 동반하기도 한다. Rieger syndrome은 상염색체 우성유전(autosomal dominant inheritance)되며, 발생빈도는 약 200,000분의 1이고, Paired-like homeodomain transcription factor2(PITX2)의 변이가 이 질환과 연관이 있는 것으로 보고되고 있다. 본 증례는 Rieger syndrome으로 진단 받은 4세 7개월 된 여아에 대한 것으로, 양안에 다동공증과 후태생환을 보이고, 측모두부계측에서 상악골 열성장이 나타났으며, 상악유측절치와 더불어 다수의 영구치 결손이 방사선 상에서 관찰되었다. 이 증례를 통하여 Rieger syndrome 환아의 구강 및 두개안면의 소견을 관찰하고, 관련 문헌을 고찰하여 다소의 지견을 얻었기에 보고하는 바이다.

• 대한두개안면성형외과학회지
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• 제12권1호
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• pp.6-11
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• 2011

Purpose: The cephalic index (CI) is used to classify the head and every race has its unique characteristics. Previous studies published in Korea were limited to demonstrating the periodical change of the CI. This study was done to determine the CI change in 0 to 20 year-old Koreans by sex and age. Methods: The measurement was done on 1,222 Koreans ranging from 0 to 20 years of age, randomly selected from 2,156 who were diagnosed with simple concussion, had no other diseases or anomalies, and took cephalographs from January, 2000 to July, 2008. The files were obtained from $Marosis^{(R)}$ and then photogrammetry was done by $Photoshop^{(R)}$. To standardize the cephalograph, the Frankfort horizontal line was selected as the reference line on lateral view and the line connecting both lateral-orbitales on AP view. The maximal length was obtained from the lateral cephalograph and the maximal breadth from the AP cephalograph. Results: The CI showed no difference by sex (p=0.4848). The CI and age showed negative correlation (p<0.0001). Analyzed separately by the male and the female, the CI showed statistical significance in the male (p<0.0001), but not in the female (p=0.4741) group. Comparing the CI above the age of 11, the CI of the female became greater than that of the male. Conclusion: This study contributes to the standardization of CI measurement and the authors were able to obtain the average CI by age. We concluded that the CI decreased according to age and most Koreans belonged to barchycephalic or hyperbrachycephalic.

• 대한두개안면성형외과학회지
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• 제12권2호
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• pp.125-128
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• 2011

Purpose: Asymmetric crying facies is caused by agenesis or hypoplasia of the depressor anguli oris muscle and is often associated various anomalies. Several static and dynamic surgical interventions have been reported, but their effects are unreliable. We report on the successful use of botulinum toxin A in an asymmetric crying facies patient. Methods: A 4-year-old girl presented with a facial asymmetry on crying or smiling. Physical examination revealed that her face had no asymmetry at rest. However, the patient showed characteristic asymmetry when smiling, crying, and with other normal facial movements. Asymmetric crying facies was clinically suspected and the weakness of left depressor anguli oris was present on electrophysiology study. Fifteen units of botulinum toxin type A were injected to the right depressor anguli oris muscle. Results: The patient showed the prominent improvement in the facial symmetry without significant complication and the effect persisted until 3 months post injection. Conclusion: Asymmetric crying facies was treated successfully with botulinum toxin A and this method was easy and noninvasive.

• 대한두개안면성형외과학회지
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• 제20권5호
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• pp.304-309
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• 2019

Background: Treatment for venous malformations of the head and neck includes sclerotherapy, surgical resection, or a combination of both. Surgical resection can remove or reduce the volume of vascular lesions; however, surgery can cause postoperative scarring and potential surgical complications. This study sought to determine the effectiveness of surgery for the treatment of venous malformations of the head and neck. Methods: A retrospective review of the medical records of patients who received surgeries for venous malformations of the head and neck from January 2011 to July 2019 was performed. Using clinical photographs, preoperative and postoperative Doppler ultrasonography, outpatient clinic records, and operation records, the postoperative result and complications were evaluated for each case. Results: Among patients who visited our vascular anomalies clinic, 43 patients (ratio of male to female= 24:19) received surgeries for venous malformations of the head and neck. Twenty-nine patients had undergone surgery only, five patients received sclerotherapy after surgery, and nine patients received surgery after preoperative sclerotherapy. In postoperative evaluations, the result was excellent in 24 patients, good in 18 patients, and poor in one patient. Four patients experienced a recurrence of lesions with lagophthalmos, drooping of the corner of the mouth, partial wound necrosis, and scar widening found in one patient each. Conclusion: Because the head and neck region is the most exposed area in the body, more active implementation of surgical treatments with or without sclerotherapy is essential to reduce the functional and cosmetic impairments associated with venous malformations.

• Clinical and Experimental Pediatrics
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• 제52권6호
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• pp.701-704
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• 2009

Smith-Magenis 증후군(SMS)은 17번 염색체에서 유전물질을 향유한 곳이 일부 떨어져 나가면서 생기는 질환으로, 신체, 발달 및 행동상의 특징적 이상이 나타나는 질환이다. 출생빈도는 출생아 25,000명 중에 한 명 꼴로 출생하는 것으로 알려져 있으나 최근 분자유전학적 진단 기술의 발달로 이 질환의 환자수가 점차 증가되고 있다. 다양한 임상증상과 더불어 수면장애, 경련에 대한 치료뿐만 아니라 적절한 언어, 행동학적 치료가 필요하다. 저자들은 SMS 환아 2예를 진단하고 치료하고 있는 경험이 있어 이를 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제52권10호
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• pp.1171-1174
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• 2009

에드워드 증후군이라 불리는 삼염색체 18은 실제 생존율이 매우 낮으며 생존한 태아도 복합적 기형과 심한 발육지연으로 생존 태아의 90%는 생후 1년 내에 사망하는 것으로 알려져 있다. 18번 염색체의 전체중복이 주된 원인이며, 부분중복 역시 중복된 부위에 따라 어느 정도 차이는 있으나 에드워드 증후군의 특징적인 임상 양상을 나타낸다. 18번 염색체의 q12.1-q21.2, q22.3-qter부위가 에드워드 증후군의 표현형을 결정하는 부위일 것이라 생각되며 이중 일부만 중복되었을 경우 가벼운 임상 양상 및 좋은 예후를 예측할 수 있다. 본 증례에서 환아는 에드워드 증후군의 표현형을 결정하는 18번 염색체의 q12부위가 포함되어 있는 q11.2-12부위에 부분중복이 관찰되었다. 환아는 전형적인 에드워드 증후군 환자보다 훨씬 가벼운 임상 증상과 높은 생존율이 기대되므로 이와 같이 보고하는 바이다.

• 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.

• 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.

• 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.