• Title/Summary/Keyword: cleft lip and cleft palate

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A Case of Scar Sarcoidosis (피부반흔에서 발생한 유육종증 1례)

  • Kim, Sun Goo;Yi, Tae Min;Kim, Yu Jin;Lee, Se Il
    • Archives of Craniofacial Surgery
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    • v.12 no.1
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    • pp.71-74
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    • 2011
  • Purpose: Sarcoidosis is a systemic noncaseating granulomatous disease of an unknown origin, and can involve any organ including the skin. The infiltration of sarcoid granuloma in an old cutaneous scar is an uncommon cutaneous manifestation of sarcoidosis. This paper reports a 35-year old female who presented with cutanesous nodules in previous facial scars. Methods: A 35-year-old female presented with cutaneous nodules for 2 months in previous scars of the forehead and lower lip that she had acquired in the childhood. An excisional biopsy of the lower lip mass, serologic examinations and radiologic studies were performed. Results: The excisional biopsy revealed noncaseating granulomas consistent with sarcoidosis. Chest CT revealed both hilar and paratracheal lymphadenopathy with nodular densities in both lung fields. Routine laboratory tests, serologic tests, serum angiotensin converting enzyme level, sputum for acid-fast bacilli, ophthalmoscopic examination, TB-PCR and NTM-PCR showed normal findings. Therefore, the patient was diagnosed with sarcoidosis. The patient refused fiberoptic bronchoscopy and medication with oral steroid. Currently, the clinical manifestation and progress are being monitored closely, and treatment is expected to start with oral steroid according to the progress. Conclusion: For the proper management of cutaneous sarcoidosis, particularly scar sarcoidosis, plastic surgeons should be aware of the many clinical and histopathological features of sarcoidosis and recommend a systemic evaluation for early diagnosis and proper treatment.

Surgical management of palatal teratoma (epignathus) with the use of virtual reconstruction and 3D models: a case report and literature review

  • Gonzalez-Cantu, Cynthia Minerva;Moreno-Pena, Pablo Juan;Salazar-Lara, Mayela Guadalupe;Garcia, Pablo Patricio Flores;Montes-Tapia, Fernando Felix;Cervantes-Kardasch, Victor Hugo;Castro-Govea, Yanko
    • Archives of Plastic Surgery
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    • v.48 no.5
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    • pp.518-523
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    • 2021
  • Epignathus is a rare congenital orofacial teratoma that arises from the sphenoid region of the palate or the pharynx. It occurs in approximately 1:35,000 to 1:200,000 live births representing 2% to 9% of all teratomas. We present the case of a newborn of 39.4 weeks of gestation with a tumor that occupied the entire oral cavity. The patient was delivered by cesarean section. Oral resection was managed by pediatric surgery. Plastic surgery used virtual 3-dimensional models to establish the extension, and depth of the tumor. Bloc resection and reconstruction of the epignathus were performed. The mass was diagnosed as a mature teratoma associated with cleft lip and palate, nasoethmoidal meningocele that conditions hypertelorism, and a pseudomacrostoma. Tridimensional technology was applied to plan the surgical intervention. It contributed to a better understanding of the relationships between the tumor and the adjacent structures. This optimized the surgical approach and outcome.

Dental Treatment of a Wolf-Hirschhorn Syndrome Patient: A Case Report (Wolf-Hirschhorn syndrome 환아의 치과 치료 치험례)

  • Kim, Miae;Park, Jihyun;Mah, Yonjoo
    • Journal of the korean academy of Pediatric Dentistry
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    • v.43 no.3
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    • pp.313-319
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    • 2016
  • Wolf-Hirschhorn syndrome (WHS), associated with the deletion of the short arm of chromosome 4, causes multiple congenital malformations. Patients suffer from various deformities, including mental and growth disorders, epilepsy, hypotonia, congenital heart defects, and atypical craniofacial features. The "Greek warrior helmet appearance" is the most characteristic feature, with a prominent glabella, high arched eyebrow, broad nasal bridge, and hypertelorism. Cleft lip with or without cleft palate is observed in 30% of patients. Dental structure anomalies also exist including multiple tooth agenesis and over-retained primary molars caused by MSX1 gene impairment, and cone-shaped and taurodontic teeth. This case, a 9-year-old girl with WHS, showed intellectual disability, delayed growth development, previous occurrence of seizures, otitis media, and the typical facial features of WHS. Dental findings included multiple congenital missing teeth, over-retained primary teeth, and severe caries on the primary molars. Dental treatments were performed under general anesthesia. This report documents the characteristics of WHS, including general and oral features, and discusses the importance of oral hygiene and preventive dental management.

Failure of Reproduction Management in an Inbreeding English Bulldog (근친교배 잉글리쉬 불독에서 번식 관리의 실패)

  • Kim, Min-Jung;Park, Sol-Ji;Kim, Geon-A;Park, Eun-Jung;Moon, Joon-Ho;Choi, Ji-Yei;Choi, Woo-Jae;Lee, Byeong-Chun;Jang, Goo
    • Journal of Veterinary Clinics
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    • v.30 no.5
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    • pp.384-386
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    • 2013
  • A two-year-old, female English bulldog was referred for breeding by artificial insemination with frozen semen of male English bulldog, a litter of female bulldog's grandfather. Intrauterine artificial insemination was done two days after the ovulation day. Sperm was evaluated after thawing by computer assisted sperm analyzer, and its motility was 89.8% with normal shape. Pregnancy bearing eight fetuses was diagnosed by ultrasonography and radiography. Cesarean section was performed sixty days after the artificial insemination. Eight pups were delivered with safe, but the entire pup had abnormalities including severe bow-legged malformations, cleft lip, cleft palate, and enlarged cranial part.

No Association of XRCC1 and CLPTM1L Polymorphisms with Non-small Cell Lung Cancer in a Non-Smoking Han Chinese Population

  • Sun, Yan;Zhang, Yong-Jun;Kong, Xiang-Ming
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.9
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    • pp.5171-5174
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    • 2013
  • Background: This study aimed to explore potential associations between single nucleotide polymorphisms (SNPs) of the x-ray repair cross-complementing group 1 (XRCC1) and cleft lip and palate transmembrane protein 1-like (CLPTM1L) and non-small cell lung cancer (NSCLC) susceptibility in non-smoker Chinese patients. Methods: A total of 200 NSCLC patients and 200 healthy controls with matched age and gender were recruited for genotyping of XRCC1 SNPs (rs2256507 and rs1001581) and CLPTM1L SNPs (rs401681 and rs4975616). Association of these SNPs with NSCLC risk was evaluated by computing the odds ratio (OR) and 95% confidence interval (CI) from multivariate unconditional logistic regression analyses with adjustment for gender and age. Results: The frequencies of genotype and allele in these four loci (rs2256507, rs1001581, rs401681, and rs4975616) were not significantly different between the cases and controls, or between either of the histological subgroups (adenocarcinoma and squamous cell carcinoma) and controls. Conclusions: Although these SNPs are associated with NSCLC risk in patients with a tobacco-smoking habit, this study demonstrated that XRCC1 and CLPTM1L gene SPNs are not linked with NSCLC risk in non-smoking patients, indicating that molecular mechanisms of NSCLC betwee tobacco smokers and non-smokers may be different. Future studies are needed to uncover the underlying molecular mechanisms for NSCLC in non-smokers.

A case of severe mandibular retrognathism with bilateral condylar deformities treated with Le Fort I osteotomy and two advancement genioplasty procedures

  • Nakamura, Masahiro;Yanagita, Takeshi;Matsumura, Tatsushi;Yamashiro, Takashi;Iida, Seiji;Kamioka, Hiroshi
    • The korean journal of orthodontics
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    • v.46 no.6
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    • pp.395-408
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    • 2016
  • We report a case involving a young female patient with severe mandibular retrognathism accompanied by mandibular condylar deformity that was effectively treated with Le Fort I osteotomy and two genioplasty procedures. At 9 years and 9 months of age, she was diagnosed with Angle Class III malocclusion, a skeletal Class II jaw relationship, an anterior crossbite, congenital absence of some teeth, and a left-sided cleft lip and palate. Although the anterior crossbite and narrow maxillary arch were corrected by interceptive orthodontic treatment, severe mandibular hypogrowth resulted in unexpectedly severe mandibular retrognathism after growth completion. Moreover, bilateral condylar deformities were observed, and we suspected progressive condylar resorption (PCR). There was a high risk of further condylar resorption with mandibular advancement surgery; therefore, Le Fort I osteotomy with two genioplasty procedures was performed to achieve counterclockwise rotation of the mandible and avoid ingravescence of the condylar deformities. The total duration of active treatment was 42 months. The maxilla was impacted by 7.0 mm and 5.0 mm in the incisor and molar regions, respectively, while the pogonion was advanced by 18.0 mm. This significantly resolved both skeletal disharmony and malocclusion. Furthermore, the hyoid bone was advanced, the pharyngeal airway space was increased, and the morphology of the mandibular condyle was maintained. At the 30-month follow-up examination, the patient exhibited a satisfactory facial profile. The findings from our case suggest that severe mandibular retrognathism with condylar deformities can be effectively treated without surgical mandibular advancement, thus decreasing the risk of PCR.

A New Facial Composite Flap Model (Panorama Facial Flap) with Sensory and Motor Nerve from Cadaver Study for Facial Transplantation (얼굴이식을 위한 운동과 감각신경을 가진 중하안면피판 모델(파노라마 얼굴피판)에 대한 연구)

  • Kim, Peter Chan Woo;Do, Eon Rok;Kim, Hong Tae
    • Archives of Craniofacial Surgery
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    • v.12 no.2
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    • pp.86-92
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    • 2011
  • Purpose: The purpose of this study was to investigate the possibility that a dynamic facial composite flap with sensory and motor nerves could be made available from donor facial composite tissue. Methods: The faces of 3 human cadavers were dissected. The authors studied the donor faces to assess which facial composite model would be most practicable. A "panorama facial flap" was excised from each facial skeleton with circumferential incision of the oral mucosa, lower conjunctiva and endonasal mucosa. In addition, the authors measured the available length of the arterial and venous pedicles, and the sensory nerves. In the recipient, the authors evaluated the time required to anastomose the vessels and nerve coaptations, anchor stitches for donor flaps, and skin stitches for closure. Results: In the panorama facial flap, the available anastomosing vessels were the facial artery and vein. The sensory nerves that required anastomoses were the infraorbital nerve and inferior alveolar nerve. The motor nerve requiring anstomoses was the facial nerve. The vascular pedicle of the panorama facial flap is the facial artery and vein. The longest length was 78 mm and 48 mm respectively. Sensation of the donor facial composite is supplied by the infraorbital nerve and inferior alveolar nerve. Motion of the facial composite is supplied by the facial nerve. Some branches of the facial nerve can be anastomosed, if necessary. Conclusion: The most practical facial composite flap would be a mid and lower face flap, and we proposed a panorama facial flap that is designed to incorporate the mid and lower facial skin with and the unique tissue of the lip. The panorama facial composite flap could be considered as one of the practicable basic models for facial allotransplantation.

Genetic Variant in CLPTM1L Confers Reduced Risk of Lung Cancer: a Replication Study in Chinese and a Meta-analysis

  • Luo, Xia;Lamsal, Laxmi Pangeni;Xu, Wen-Juan;Lu, Jie;Lu, Yan-Jun;Shen, Ying;Guan, Qing
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.21
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    • pp.9241-9247
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    • 2014
  • Background: Rs31489 in the cleft lip and palate transmembrane1-like gene (CLPTM1L) has been identified to be associated with lung cancer through genome-wide association studies (GWAS). However, some recent replication studies yielded inconclusive results. Thus, we undertook this study to investigate the precise effect of rs31489 on lung cancer susceptibility. Materials and Methods: A hospital-based case-control study in 1,673 Chinese subjects (611 individuals with lung cancer and 1,062 controls) and a meta-analysis among 32,199 subjects (16,364 cases and 15,835 controls) were performed in this study. Results: In our case-control study, rs31489 was inversely associated with lung cancer (AC versus CC: OR=0.68, 95%CI=0.52-0.88; additive model: OR=0.68, 95%CI=0.54-0.85; dominant model: OR=0.65, 95%CI =0.51-0.84). Stratification analysis by smoking status showed a significant association and strong genetic effect in non-smokers but not in smokers. Our meta-analysis further confirmed the association, although with significant heterogeneity contributed by study design and source of controls, as shown by stratified analysis. Sensitive and cumulative analyses both indicated robust stability of our results. In addition, there was no observable publication bias in our meta-analysis. Conclusions: Overall, the findings from our replication study and meta-analysis demonstrated that CLPTM1L gene rs31489 is significantly associated with lung cancer.

Silicone Implant-Based Paranasal Augmentation for Mild Midface Concavity

  • Kim, Joo Hyun;Jung, Min Su;Lee, Byeong Ho;Jeong, Hii Sun;Suh, In Suck;Ahn, Duk Kyun
    • Archives of Craniofacial Surgery
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    • v.17 no.1
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    • pp.20-24
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    • 2016
  • Background: Midface concavity is a relatively common facial feature in East Asian populations. Paranasal augmentation is becoming an increasingly popular procedure for patients with mild concavity and normal occlusion. In this study, we evaluate clinical outcomes following a series of paranasal augmentation. Methods: A retrospective review was performed for patients with Class I occlusion who had undergone bilateral paranasal augmentation using custom-made silicone implants, between October 2005 and September 2013. Patient charts were reviewed for demographic information, concomitant operations, and postoperative complications. Preoperative and postoperative (1-month) photographs were used to evaluate operative outcome. Results: The review identified a total of 93 patients meeting study criteria. Overall, aesthetic outcomes were satisfactory. Five-millimeter thick silicone implant was used in 81 cases, and the mean augmentation was 4.26 mm for this thickness. Among the 93 patients, 2 patients required immediate implant removal due to discomfort. An additional 3 patients experienced implant migration without any extrusion. Nine patients complained of transient paresthesia, which had resolved by 2 weeks. There were no cases of hematoma or infection. All patients reported improvement in their lateral profile and were pleased at follow-up. Complications that arose postoperatively included 9 cases of numbness in the upper lip and 3 cases of implant migration. All cases yielded satisfactory results without persisting complications. Sensations were fully restored postoperatively after 1 to 2 weeks. Conclusion: Paranasal augmentation with custom-made silicone implants is a simple, safe, and inexpensive method that can readily improve the lateral profile of a patient with normal occlusion. When combined with other aesthetic procedures, paranasal augmentation can synergistically improve outcome and lead to greater patient satisfaction.

ACUTE AIRWAY OBSTRUCTION IN AN INFANT WITH TREACHER COLLINS SYNDROME: REPORT OF A CASE (Treacher Collins 증후군 환아에서 급성 기도 폐색)

  • Ryu, Sun-Youl;Seo, Il-Young;Hwang, Ung;Kim, Sun-Kook
    • 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.