• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.33 no.6
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• pp.681-683
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• 2007

Kabuki(Niikawa-Kuroki) syndrome was first reported by Niikawa et al(1981). The faces of the patients are similar to the make-up of traditional Japanese Kabuki actors: long palpebral fissures, an ectropium of the lateral third of the eyelids, and arching eyebrows with sparse lateral halves. Craniofacial findings include a depressed nasal tip, short nasal septum, large and prominent ears, and micrognathia. Other main features area mild to moderate mental deficiency, short stature, skeletal and dermatoglyphic abnormalities, including prominent finger tip pads. Oral anomalies are common in KS(over 60%) and include abnormal dentition, widely spaced teeth, cleft palate or lip, high vault of palate, hypodontia, conical incisors, screw driver-shaped incisors and ectopic upper 6-year molars. The increased occurrence of cleft lip and palate or the development of a high vault of palate has been described by a number of authors. This condition is believed to be common in Japan, but has been reported from other parts of the world. The objective of this presentation is to report a case of this syndrome in six-year-old girl, with characteristic findings.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.13 no.4
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• pp.476-490
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• 1991

Although various technical details of the surgical procedures have been improved, Skeletal relapse is the most noteworthy complication of orthognathic surgery. It seems to be an imbalance of the perioral muscular groups resulting from changes in the cavitas oris propria after surgery. Among other factors, it is widely known with the changes of tongue posture, as indicated by the hyoid position. Ten patients that had undergone mandibular setbacks by way of Modified Obwegeser method were evaluated retrospectively. The serial cephalometric films were taken preoperatively, immediately postoperatively, after removal of IMF, and at a subsequent long-term follow-up period. The cephalometric evaluation of tongue posture were based on stable craniofacial landmarks. The relation between the 2-dimensional changes of tongue posture and hyoid position and the relapse of mandibular setback are discussed. Anatomic changes that were found to accompany such setback are as follows. 1.There are 2 cases of relapse in 10 patients at long-term follow-up(20%) 2.The tongue was moved posteriorly and its size was reduced anteriorly and posteriorly at immediate postoperative change and then the mandible shifted slightly toward the preoperative position, but the long was adapted to its new environment due to changing the position of its posterior part, and also the hyoid that moved posterioly and inferiorly was stabilized sightly posteriorly than its original position. 3.On the distance change of the suprahyoid muscle, the distance of P-H, ST-H was increased at immediate postoperative change(p<0.01) and decreased at IMF period(p<0.001), but the distance of H-Me, H-Ge was slightly decreased at IMF and long-term period(p<0.05). 4.On the width change of the pharyngeal air way, the width of the upper part of the pharyngeal space was lightly contracted at IMF and long-term period(p<0.05). 5.On the relation between mandibular setback and tongue posture and hyoid position, the significant correlation was found between the changes of some parts of mandibular setback and those of tongue posture, and not found those of hyoid position.

• Archives of Plastic Surgery
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• v.39 no.1
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• pp.31-35
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• 2012

Background : Orbital roof fractures are frequently associated with a high energy impact to the craniofacial region, and displaced orbital roof fractures can cause ophthalmic and neurologic complications and occasionally require open surgical intervention. The purpose of this article was to investigate the clinical features and treatment outcomes of orbital root fractures combined with neurologic injuries after early reconstruction. Methods : Between January 2006 and December 2008, 45 patients with orbital roof fractures were admitted; among them, 37 patients were treated conservatively and 8 patients underwent early surgical intervention for orbital roof fractures. The type of injuries that caused the fractures, patient characteristics, associated fractures, ocular and neurological injuries, patient management, and treatment outcomes were investigated. Results : The patients underwent frontal craniotomy and free bone fragment removal, their orbital roofs were reconstructed with titanium micromesh, and associated fractures were repaired. The mean follow up period was 11 months. There were no postoperative neurologic sequelae. Postoperative computed tomography scans showed anatomically reconstructed orbital roofs. Two of the five patients with traumatic optic neuropathy achieved full visual acuity recovery, one patient showed decreased visual acuity, and the other two patients completely lost their vision due to traumatic optic neuropathy. Preoperative ophthalmic symptoms, such as proptosis, diplopia, upper eyelid ptosis, and enophthalmos were corrected. Conclusions : Early recognition and treatment of orbital roof fractures can reduce intracranial and ocular complications. A coronal flap with frontal craniotomy and orbital roof reconstruction using titanium mesh provides a versatile method and provides good functional and cosmetic results.

• Archives of Plastic Surgery
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• v.38 no.4
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• pp.485-489
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• 2011

Purpose: Median cleft of upper lip is defined as any congenital vertical cleft through the midline of the upper lip. It is uncommon, its embryological pathogenesis remains unexplained to date. The authors hereby report a rare case of median cleft of the upper lip associated with enlarged frenulum and palatal mass. This case offers some understanding of the possible embryologic development of this anomaly. Methods: A 10-month-old boy born by normal vaginal delivery at full-term had a notch in the midline of the upper lip with widened philtrum along with enlarged median frenulum, alveolar cleft, and mass of the hard palate. We performed en bloc resection of the enlarged frenulum and palatal mass and cheiloplasty under general anesthesia. Results: Histological examination revealed that the frenulum and palatal mass was consisted of fibrous tissue with normal mucous membrane. The postoperative course was satisfactory. Conclusion: A rare case of median cleft of the upper lip with associated enlarged frenulum and palatal mass was presented with proper surgical management. The surgical technique includes marginal excision of the clefted epithelium and reconstruction of orbicularis oris muscle, in addition to en bloc resection of the palatal mass and frenulotomy.

• Archives of Plastic Surgery
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• v.50 no.1
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• pp.63-69
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• 2023

Background An increasing number of nonbinary patients are receiving gender-affirming procedures due to improved access to care. However, the preferred treatments for nonbinary patients are underdescribed. The purpose of this study was to investigate the goals and treatments of nonbinary patients. Methods A retrospective study of patients who self-identified as nonbinary from our institutional Gender Health Program was conducted. Patient demographics, clinical characteristics, surgical goals, and operative variables were analyzed. Results Of the 375 patients with gender dysphoria, 67 (18%) were nonbinary. Over half of the nonbinary patients were assigned male at birth (n = 57, 85%) and nearly half preferred the gender pronoun they/them/theirs (n = 33, 49%). A total of 44 patients (66%) received hormone therapy for an average of 2.5±3.6 years, primarily estrogen (n = 39). Most patients (n = 46, 69%) received or are interested in gender-affirming surgery, of which, almost half were previously on hormone therapy (n = 32, 48%). The most common surgeries completed or desired were facial feminization surgery (n = 15, 22%), vaginoplasty (n = 15, 22%), mastectomy (n = 11, 16%), and orchiectomy (n = 9, 13%). Nonbinary patients who were assigned male at birth (NB-AMAB) were more often treated with hormones compared to nonbinary patients assigned female at birth (NB-AFAB) (72% vs. 30%, p = 0.010). Conversely, patients who were AFAB weremore likely to complete or desire surgical intervention than those who were AMAB (100% vs. 63.0%, p < 0.021). Conclusion Majority of nonbinary patients were assigned male at birth. NB-AFAB patients all underwent surgical treatment, whereas NB-AMAB patients were predominantly treated with hormone therapy.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.28 no.4
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• pp.318-325
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• 2002

The primary method of diagnosis in craniofacial deformity patient is used by gross inspection. So we studied the frontal photometric measurements for maxillofacial Korean normals 44 male and 48 female ages 19 to 20 years were selected from a group of 92 healthy Kyung Hee university students in Seoul.. The photograph were taken with the subject sitting in head position parallel with interpapillary plane to the floor. During taking pictures, facial anallyser by Obwegeser(Martin Co., Germany) was used for correct measurements. The results of this study was followed. 1. In the linear measurements, all values of males were longer than those of females but middle third height and lower third height, facial width and nasal width of males were longer than those of females in p<0.05 2. The difference between right and left angular and linear measurement was insignificant. 3. In the horizontal facial ratios, interocular distance and nasal width were longer and mouth width were smaller in korean than in american(p<0.05). 4. In the vertical ratios, korean women have shorter facial height of lower third comparing with facial height of middle third than american(p<0.05). 5. In the vertical facial ratios, korean have smaller proportion below the stomion in the lower third department than american. (p<0.05).

• Journal of Genetic Medicine
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• v.19 no.2
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• pp.111-114
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• 2022

Many monogenic neurodevelopmental disorders have been newly identified in recent years owing to the rapid development of genetic sequencing technology. These include variants of the epigenetic machinery - up to 300 known epigenetic factors of which about 50 have been linked to specific clinical phenotypes. Chromodomain, helicase, DNA binding 1 (CHD1) is an ATP-dependent chromatin remodeler, known to be the causative gene of the autosomal dominant neurodevelopmental disorder Pilarowski-Bjornsson syndrome. Patients exhibit various degrees of global developmental delay, autism, speech apraxia, seizures, growth retardation, and craniofacial dysmorphism. We report the first case of Pilarowski-Bjornsson syndrome in Korea, due to a de novo missense variant of the CHD1 gene (c.862A>G, p.Thr288Ala) in a previously undiagnosed 17-year-old male. His infantile onset of severe global developmental delay, intellectual disability, speech apraxia, and failure to thrive are compatible with Pilarowski-Bjornsson syndrome. We also noted some features not previously reported in this syndrome such as skeletal dysplasia and ichthyosis. Further studies are needed to discover the specific phenotypes and pathogenic mechanisms behind this rare disorder.

• Archives of Plastic Surgery
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• v.45 no.2
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• pp.128-134
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• 2018

Background Non-syndromic craniosynostosis causes craniofacial asymmetry and may persist after cranioplasty. These postoperative asymmetries are primarily depressions. In some cases, patients may be subjected to pranks and harassment by their peers, affecting their psychosocial development. We propose lipoinjection enriched with adipose stem cells (ASCs) to treat the sequelae of craniosynostosis in the fronto-orbital and temporal complex in cranioplasty patients, with the goal of improving the appearance of the upper third of the face. Methods Twelve children (four boys and eight girls) between 4 and 8 years of age (mean age, 6 years) in the postoperative period after treatment for plagiocephaly, brachycephaly, and trigonocephaly were included, with a follow-up period of 1 to 18 months. Fat tissue was obtained from the lower abdomen, and ASCs were isolated using the Yoshimura technique. Lipoinjection was performed using several mini-approaches to ensure adequate distribution. Results Two different scales were used to evaluate the aesthetic outcomes. At 6 months, three plastic surgeons independent of the study classified the results using a Likert scale. The patients' parents categorized the results using a visual analog scale at 6, 9, and 18 months. R esults were favorable on both scales, as the patients' facial appearance improved and they reported increased happiness and self-esteem due to their remodeled facial appearance. Conclusions We suggest that lipoinjection enriched with ASCs is a good alternative for correcting asymmetry of the fronto-orbital and temporal contour in patients with sequelae of craniosynostosis. This treatment will help boost patients' self-esteem starting at an early age.

• Archives of Plastic Surgery
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• v.43 no.2
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• pp.204-209
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• 2016

Temporal hollowing occurs to varying degrees after pterional craniotomy. The most common cause of temporal hollowing is a bony defect of the pterional and temporal regions due to the resection of the sphenoid ridge and temporal squama for adequate exposure without overhang. The augmentation of such bony defects is important in preventing craniofacial deformities and postoperative hollowness. Temporal cranioplasty has been performed using a range of materials, such as acrylics, porous polyethylene, bone cement, titanium, muscle flaps, and prosthetic dermis. These methods are limited by the risk of damage to adjacent tissue and infection, a prolonged preparation phase, the possibility of reabsorption, and cost inefficiency. We have developed a method of temporal augmentation using a calvarial onlay graft as a single-stage neurosurgical reconstructive operation in patients requiring craniotomy. In this report, we describe the surgical details and review our institutional outcomes. The patients were divided into pterional craniotomy and onlay graft groups. Clinical temporal hollowing was assessed using a visual analog scale (VAS). Temporal soft tissue thickness was measured on preoperative and postoperative computed tomography (CT) studies. Both the VAS and CT-based assessments were compared between the groups. Our review indicated that the use of an onlay graft was associated with a lower VAS score and left-right discrepancy in the temporal contour than were observed in patients undergoing pterional craniotomy without an onlay graft.

• Archives of Plastic Surgery
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• v.34 no.3
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• pp.392-394
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• 2007

Purpose: Inflammatory myofibroblastic tumor(IMT) is characterized by clonal proliferation of myofibroblastic spindle cells and accompanied by lymphoplasmacytic infiltration. IMT is an uncommon lesion reported to arise in various organs, and is believed to be a reactive inflammatory condition. IMT forms a spectrum of lesions ranging from benign, infection-related lesions to low-grade malignancies, capable of local recurrences and rarely distant metastasis. IMT occurs mostly in the lung, but rarely in the craniofacial region. Methods: A 28-year-old male with painless swelling in the medial canthal area was referred to our department for the last 2 months. A 2cm sized mass was palpated. He was treated with complete local excision. Results: In the study by computerized tomography, a $2.0{\times}0.8{\times}1.0cm$ mass was found in the subcutaneous tissue layer. Grossly, the mass was well-circumscribed, smooth-surfaced, flesh colored, and hard. The tumor was well demarcated from the other tissues. Histopathologic examinations showed bland spindle-shaped cells loosely arranged with scattered lymphoid cells. Immunohistochemical examinations demonstrated a positive reactivity for alpha-SMA and a negative reactivity for desmin and CD34. No recurrence was noted 12 months after surgery. Conclusion: Emphasis is given to complete resection of the tumor for both diagnostic and therapeutic purposes. Further evaluation to find other lesions in different sites should be considered. Continued follow-up is recommended.