• Archives of Plastic Surgery
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• 제32권5호
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• pp.561-566
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• 2005

Even though it is generalized to perform synchronous lip and nasal correction, there are some cases in need of secondary correction of cleft lip nose deformity. In these procedures, the lengthening of columella plays an important role. We performed eighteen cases of the secondary cleft lip nose deformity correction using two different methods from 1997 to 2003. The central lip flap was used in eight patients and V-Y advancement flap in ten patients. Additional procedures including reverse U-incision, interdomal fixation sutures and suspension sutures were used for correction of combined deformity. Silastic nasal retainers were kept in all patients for 6 months. Both of central lip flap and V-Y advancement flap seems to be a good technique for lengthening columellar soft tissue. But new columella after V-Y advancement flap appeared to be too narrow and a bit unnatural looking and central lip flap left additional scar on the upper lip although it was conspicuous. We think that central lip flap is a better technique in a case with wide philtrum and narrow columella and V-Y advancement flap can be another choice in a columella with sufficient width.

• Archives of Plastic Surgery
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• 제34권4호
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• pp.528-530
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• 2007

Purpose: Holoprosencephaly(HPE) is a rare developmental defect due to incomplete cleavages of the prosencephalon during the third week of fetal development. Chromosomal anomalies, genetic syndrome, teratogen, or genetic disorder of non-syndromic HPE are usually accepted as etiology. The consequences of prechordal mesoderm defect are varying degrees of deficit of midline facial development, especially the median nasal process(premaxilla), and incomplete morphogenesis of the forebrain. We experienced a case of lobar HPE with complete cleft lip and palate. Methods: A female newborn infant was born at $38^{+6}$ weeks' gestational age via NSVD. The infant's birth weight was 3.6 kg, height 52 cm, and head circumference 32.5 cm, showing microcephaly, flat nose, median complete cleft lip & palate, and hypotelorism, along with defects of midfacial development including losses of premaxilla, philtrum, nasal septum, and columella. Results: There were no specific findings noted from the head and neck X-ray and tests for endocrine and metabolic disorders, but clinical characteristics of midface and dysgenesis corpus callosum on brain MRI were seen, so that this case was diagnosed with HPE. Conclusion: HPE is divided into three categories of alobar, semilobar, and lobar prosencephaly according to the degree of cerebral hemisphere separation. Assesment of patient's brain abnormality and malformation is essential in determining the extent and benefit of surgical intervention. This case was included in the lobar type HPE which shows relatively good prognosis compared with other types and reconstruction of median complete cleft lip & palate and midfacial defects will be performed.

• Archives of Plastic Surgery
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• 제38권4호
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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.

• Journal of Genetic Medicine
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• 제18권2호
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• pp.127-131
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• 2021

Autosomal recessive spinocerebellar ataxia 20 (SCAR20; OMIM #616354) is a recently described disorder that is characterized by ataxia, intellectual disability, cerebellar atrophy, macrocephaly, coarse face, and absent speech. It is caused by loss-of-function mutations in SNX14. To date, all cases with homozygous pathogenic variants have been identified in consanguineous families. This report describes the first Korean cases of SCAR20 family caused by homozygous variants in SNX14. Two siblings were referred to our clinic because of severe global developmental delay. They presented similar facial features, including a high forehead, long philtrum, thick lips, telecanthus, depressed nasal bridge, and broad base of the nose. Because the older sibling was unable to walk and newly developed ataxia, repeated brain magnetic resonance imaging (MRI) was performed at the age of 4 years, revealing progressive cerebellar atrophy compared with MRI performed at the age of 2 years. The younger sibling's MRI revealed a normal cerebellum at the age of 2 years. Whole-exome sequencing was performed, and homozygous variants, such as c.2746-2A>G, were identified in SNX14 from the older sibling. Sanger sequencing confirmed homozygous SNX14 variants in the two siblings as well as a heterozygous variant in both parents. This report extends our knowledge of the phenotypic and mutational spectrum of SCAR20. We also highlight the importance of deep phenotyping for the diagnosis of SCAR20 in individuals with developmental delay, ataxia, cerebellar atrophy, and distinct facial features.

• 대한치과교정학회지
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• 제53권6호
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• pp.402-419
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• 2023

Objective: This study assessed the differences in soft tissue deviations of the nose, lips, and chin between different mandibular asymmetry types in Class III patients. Methods: Cone-beam computed tomography data from 90 Class III patients with moderate-to-severe facial asymmetry were investigated. The sample was divided into three groups based on the extent of mandibular rolling, yawing, and translation. Soft tissue landmarks on the nose, lips, and chin were investigated vertically, transversely, and anteroposteriorly. A paired t test was performed to compare variables between the deviated (Dv) and nondeviated (NDv) sides, and one-way analysis of variance with Tukey's post-hoc test was performed for intergroup comparisons. Pearson's correlation coefficient was calculated to assess the relationship between the soft and hard tissue deviations. Results: The roll-dominant group showed significantly greater differences in the vertical positions of the soft tissue landmarks between the Dv and NDv than other groups (P < 0.05), whereas the yaw-dominant group exhibited larger differences in the transverse and anteroposterior directions (P < 0.05). Moreover, transverse lip cant was correlated with the menton (Me) deviation and mandibular rolling in the roll-dominant group (P < 0.001); the angulation of the nasal bridge or philtrum was correlated with the Me deviation and mandibular yawing in the yaw-dominant group (P < 0.01). Conclusions: The three-dimensional deviations of facial soft tissue differed based on the mandibular asymmetry types in Class III patients with similar amounts of Me deviation. A precise understanding of soft tissue deviation in each asymmetry type would help achieve satisfactory facial esthetics.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제28권4호
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• pp.348-355
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• 2006

우리는 3예의 편측성 불완전 구순열 환아에서 Bardach 삼각피판법을 사용하여 구순열을 수복하였다. Millard법에 비해 비주기저부와 비익기저부에 부가적인 절개를 가하지 않으므로 술후 반흔을 줄일 수 있었다. 또한 Tennison-Randall법에 비해 간단하면서도 정교한 계측에 의한 작도가 가능하였다. 한편 삼각피판법의 단점으로 지적되고 있는 인중 부위의 술후 반흔은 3예 모두 불완전 구순열이었기 때문에 삼각피판의 길이가 짧아 심미적으로 허용할 만하였다. Bardach 삼각피판법은 편측성 불완전 구순열의 수복에 추천할 만한 술식임을 경험하였다.

• 대한치과마취과학회지
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• 제13권1호
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• pp.13-18
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• 2013

CATCH 22 syndrome is a one of the most common chromosome microdeletion syndrome with multiple organ anomalies in humans, with an incidence of approximately 1:4,000 to 1:5,000 live births. It is caused by a microdeletion of 1.5 to 3.0 megabases on the long arm of chromosome 22. The phenotypic spectrum of this disorder is wide and various. A 19-year-old patient who showed delayed growth and development (Height; 110 cm, Weight; 18 kg) was referred to our department for the treatment of dental cavities. She was diagnosed as CATCH 22 syndrome in 2004. Physical examination revealed hypertelorism, a short philtrum, thick reflected lips and a small mouth. She underwent cleft palate surgery at 1 year of age and heart valve surgery due to the cardiovascular abnormality at 13 years of age. Convulsive seizures had persisted until 5 years ago but are well controlled at present. Oral examination showed poor oral hygiene, crowding, prolonged retention on #65, 75 and dental cavities on #16, 21, 65, 26, 36, and 46. Cavity treatment and prophylaxis were performed under general anesthesia. Also continuous follow-up checks have been carrying out with the periodic prophylaxis and dental home education. Problems with numerous cavities and gingivitis which can lead to specific risks are common for CATCH 22 syndrome patients. It is therefore of great importance that these patients are referred to foremost physician and dental specialist for the oral care. In addition, preventive treatment targeting the risk of dental cavities and gingivitis is especially important and, as the syndrome involves many different medical problems, the dental treatment should be carried out in collaboration with the patient's physician.

• Archives of Plastic Surgery
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• 제35권2호
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• pp.139-146
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• 2008

Purpose: The objective of this study is anthropometric analysis of mouth and lower face of Korean. The relationship of soft-tissue to underlying bony structures determine the overall aesthetics of the face. The goal of aesthetic surgery of the face is to achieve the ideal normal and enhance the aging face. The purpose of present study was to determine the change of the morphology of the mouth and lower face based on soft-tissue landmarks according to age group to facilitate prediction during aesthetic surgery. Methods: The standardized photographs of 2,018 healthy volunteers(18 to 79 years of age; 1,070 males, 948 females) were investigated. Age groups were classified into young, middle-aged, and elderly groups. Five and seven items were measured on frontal and lateral view photographs, respectively. Individual dimensions were compared in the three age groups and between males and females. Results: The width of mouth is 4.5 times larger than that of philtrum. Most of measured data decreased with age. However, woman's lip width of the mouth somewhat increased from the young to elderly. The width of lower face is 2.5 times larger than mouth in young age group and increased slightly from the young to middle-aged and thereafter slightly decreased to elderly group. Upper lip was more higher than lower lip and male lip was more higher than female. But male and female lip height is similar at old age. Conclusion: Most of Koreans showed prominent lower face because of the development or protrusion of the mandible. And the descent of soft-tissue around the mouth was one of the significant characteristics of senile change. The posterior retrusion of the subnasal was an another characteristic. This study will help to elucidate the age-related dimensional differences of the human being and to provide useful information for clinical applications in oral and aesthetic surgery.

• Archives of Plastic Surgery
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• 제36권2호
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• pp.174-182
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• 2009

Purpose: The Mulliken's method is a one of the very excellent technique to correction of the unilateral cleft lip. It could decrease the need of additional operation and second operation by the early simultaneous correction of unilateral cleft lip and nasal deformity, at a time. Numerous procedures were advocated for the correction of nasal deformity, but with general dissatisfaction of the results, it became obvious that no one procedure is the ideal one. The authors have been operating on unilateral cleft lip by Mulliken's method and long term follow - up of postoperative result was evaluated. Methods: The authors have done long term follow - up of result in the 75 cases unilateral cleft lip patient, during 1 ~ 7 years. That was repaired by simultaneous correction of cleft lip and nasal deformity by Mulliken's method at the period from June, 1997 to December, 2007. The patients were unilateral complete cleft lip 39 cases, unilateral incomplete cleft lip 36 cases. In the severe complete cleft lip cases, lip adhesion operation was done before definite operation. The mean age of unilateral cleft lip operation was 3.2 months. Five anthropometric parameters, which were upper lip, cutaneous lip and vermilion mucosa height, nasal tip protrusion, columella length were measured by Sliding Vernier Caliper. The anthropometric analysis was performed preoperative and postoperative at 6 months, 3, 5 and 7 years and the results were com pared with those of age - matched, normal children. T - tests were used to analyze the differences between the measurements. Results: Long - term postoperative results were evaluated by anthropometrically. Most patients showed adequate growth of upper lip height, vermilion mucosa height and columella length. But nasal tip protrusion was relatively short compare with normal value. Incomplete cleft lip group was nearly normal growth results than complete cleft lip group. Conclusion: In conclusion, we could make harmonious Cupid's bow, natural philtrum and lip, appropriate nasal shape by Mulliken's method. But nasal tip protrusion was under the normal values on complete and incomplete group. And incomplete group was more good results than complete group. We have experienced repair of cleft lip by Mulliken's method with 75 cases of unilateral cleft lip patients and conclude that it was very useful and good method.

• Archives of Plastic Surgery
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• 제37권4호
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• pp.427-432
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• 2010

Purpose: The purpose of this study is to estimate muscle defect by ultrasonography in the patients with secondary deformities of the lip. We investigated the association between the muscle defect in the repaired cleft lip and the philtral appearance not only at resting state but also maximal puckering. Methods: From December 2006 to November 2007, 52 children were evaluated after primary or secondary cheiloplasty. Digital photographs were taken both from the front and both three quarter views in repose and at maximal pucker. Video clips were also taken in repose and at maximal pucker. A panel of four, scored the philtral ridge and dimple seen on these photographs and videos by using two visual analog scales. Eminence of the philtral ridge was scored by a 5 point grading scale, from "conspicuous groove" to "normal philtral ridge" and the philtral dimple was scored by 3 point grading scale, from "no dimple" to "prominent dimple". Ultrasound images of the upper lip were made using a linear array transducer at the resting position of the lip and evaluated by a single radiologist. Results: The philtral ridge eminence scored $2.79{\pm}0.54$ and $1.40{\pm}0.53$ at resting and maximal pucker, correlating with "flat" and "conspicous groove". The philtral dimpling scored $1.44{\pm}0.53$ and $2.27{\pm}0.66$ at resting and maximal pucker, correlating with "no dimple" and "slight dimple". Ultrasound imaging showed the average muscle dehiscence to be $3.78{\pm}2.14$ mm at resting position. Correlation between the muscle defect in ultrasound imaging and philtral ridge eminence at rest was statistically significant (p<0.050), but was not significant (p=0.756) at maximal pucker using Spearman's rank correlation. Correlation between the muscle defect in ultrasound imaging and philtral dimpling was not statistically significant both at rest (p=0.920) and at maximal pucker (p=0.815) using Spearman's rank correlation. Conclusion: Quantitative assessment of the muscle defect using ultrasonography correlates with the static philtral appearance, but does not correlate with the dynamic appearance. Also, the size of the muscle defect does not show any correlation with the philtral dimpling. Our findings reveal that ultrasound imaging partially reflect static appearance of philtrum but cannot reflect dynamic appearance and suggest the need for further research to evaluate dynamic appearance.