• 대한두개안면성형외과학회지
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• 제20권4호
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• pp.265-269
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• 2019

Congenital hypoplasia of the depressor anguli oris muscle is a rare cause of asymmetrical crying facies in newborns. The clinical manifestations range from mild to severe asymmetry and may persist up to adulthood. In the current case, the patient did not exhibit other congenital anomalies or paralysis of other branches of the facial nerve. This adult patient presented with severe asymmetrical lower lip deformity during full mouth opening since birth. A chromosomal study for the detection of 22q gene deletion yielded negative results. The electromyography findings of the lower lip were insignificant. Depressor labii inferioris muscle resection was not effective, but bidirectional (horizontal and vertical) fascia lata grafting improved the aesthetic appearance of the asymmetrical lower lip. The patient showed improved lower lip symmetry during full mouth opening at 1 year after the surgery. Therefore, the details of this rare case are reported herein.

• 대한구순구개열학회지
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• 제8권1호
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• pp.23-29
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• 2005

The facial cleft and duplicated maxilla are lire congenital anomaly. After Rushton and Walker had reported a unilateral facial cleft with excess tooth and bone formation in 1937, few authors described similar cases. The etiology of this anomaly is not well understood, but considered embryologically as a neurocristopathy. A neurocristopathy is defined as a condition arising from aberrations in early migration, growth and differentiation of neural crest cells. This aberrations result in facial malformation such as facial clefts and loss or duplication of facial structures. We experienced a male newborn baby with bilateral facial cleft and duplicated maxilla. The cleft was surgically corrected when he was 5 months old. The function and appearance of lip are improved. Duplicated maxilla will be surgically removed. We report this case with review of literatures.

• BMB Reports
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• 제36권6호
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• pp.533-537
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• 2003

The nonsyndromic cleft lip and palate (NSCL/P) is a congenital deformity of multifactorial origin with a relatively high incidence in the oriental population. Various etiologic candidate genes have been reported with conflicting results, according to race and analysis methods. Recently, the ablation of the TGF-${\beta}3$ gene function induced cleft palates in experimental animals. Also, polymorphisms in the TGF-${\beta}3$ gene have been studied in different races; however, they have not been studied in Koreans. A novel A $\rightarrow$ G single nucleotide polymorphism (defined by the endonuclease SfaN1) was identified in intron 5 of TGF-${\beta}3$ (IVS5+104 A > G). It resulted in different genotypes, AA, AG, and GG. The objective of this study was to investigate the relationship between the SfaN1 polymorphism in TGF-${\beta}3$ and the risk of NSCL/P in the Korean population. The population of this study consisted of 28 NSCL/P patients and 41 healthy controls. The distribution of the SfaN1 genotypes was different between the cases and controls. The frequency of the G allele was significantly associated with the increased risk of NSCL/P [odds ratio (OR) = 15.92, 95% confidence interval (CI) = 6.3-41.0]. The risk for the disease increased as the G allele numbers increased (GA genotype: OR = 2.11, 95% CI = 0.38-11.68; GG genotype: OR = 110.2, 95% CI = 10.67 - 2783.29) in NSCL/P. A stratified study in patients revealed that the SfaN1 site IVS5+104A > G substitution was strongly associated with an increased risk of NSCL/P in males (p < 0.001), but not in females. In conclusion, the polymorphism of the SfaN1 site in TGF-${\beta}3$ was significantly different between the NSCL/P patients and the control. This may be a good screening marker for NSCL/P patients among Koreans.

• Archives of Plastic Surgery
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• 제46권1호
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• pp.16-22
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• 2019

Background Various surgical techniques have been used to correct Tessier number 7 craniofacial cleft, which involves macrostomia, ear deformity, and hemifacial microsomia. To achieve symmetrical and satisfactory results in patients with macrostomia, the authors performed a 1-mm medial overcorrection on the cleft side and evaluated the results of this procedure. Methods A retrospective medical record review of patients diagnosed with Tessier number 7 craniofacial cleft from March 1999 to February 2017 was performed. Using clinical photographs, outpatient clinic records, and operative records, information was recorded regarding concurrent congenital anomalies, postoperative complications, and follow-up. Using Photoshop CS2, the length of both sides of the lip was compared. The ratio of these lengths was calculated to evaluate lip symmetry. Results Of the patients treated at the Department of Plastic and Reconstructive Surgery at Kyungpook National University Chilgok Hospital, 11 (male-to-female sex ratio, 7:4) were diagnosed with Tessier number 7 craniofacial cleft. Concurrent congenital anomalies included skin tag, hemifacial microsomia, and cleft palate. The mean duration of follow-up was $78.273{\pm}72.219$ months and the mean ratio of the lengths of both sides of the lip was $1.048{\pm}0.071$. Scar widening occurred as a postoperative complication in some patients. No cases of wound infection, bleeding, or wound dehiscence occurred. Conclusions For the successful correction of macrostomia, plastic surgeons should consider both functional and aesthetic problems of the lip. Adequate repair of the orbicularis oris muscle, skin closure with Z-plasty, and medial overcorrection of the neo-oral commissure led to good results in our patients.

• 한국동물생명공학회지
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• 제34권3호
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• pp.253-258
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• 2019

A female English bulldog was gave birth two neonates by cesarean section on the sixty one days after mating, but both neonates were died soon after birth. The bodies of neonates were diagnosed using radiography, ultrasonography, computed tomography and necropsy immediately after death. Both neonates had caudal regression syndrome, butterfly vertebra, hydrocephalus, umbilical hernia, cleft palate and bow-legged hind-limb. At necropsy, neonates had mild fetal anasarca, cleft lip and the skull was remained non-union. At thoracic cavity, only three ribs and thoracic spines were existed and patent ductus arteriosus was found. At abnormal cavity, the renal ectopia was found with abnormal morphology. In the present case, those English bulldog neonates with multiple congenital malformation syndromes seriously suffered vertebral column anomalies and that may induced by neural tube defects in during embryonic period. To prevent congenital malformation occurring in English bulldog, further in depth studies are needed for the breed specific genetic diversity and for the reason of behind genetic abnormality in these breed.

• 대한구순구개열학회지
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• 제6권1호
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• pp.53-58
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• 2003

Lateral facial cleft is a rare congenital craniofacial anomaly. Their incidence is about 1 in 60,000 births and early treatment with closure in layers is important. Surgical treatment must reconstruct an anatomic and functional situation which give a good esthetic result. This study reports two cases of male at 31 months and 9 months suffered from esthetic problems due to lateral displacement of the oral commisure on the right side. Surgical treatment; the mucosa is closed in with a Z-plasty to avoid intraoral band contracture, the orbicularis oris muscle is closed after interfiber reorientation, and the skin is closed with multiple Z-plasty. So we report two cases of unilateral lateral facial cleft and review of etiopathogenesis in children with lateral facial cleft.

• 대한두개안면성형외과학회지
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• 제20권6호
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• pp.397-400
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• 2019

Frontonasal dysplasia is an uncommon congenital anomaly with diverse clinical phenotypes and highly variable clinical characteristics, including hypertelorism, a broad nasal root, median facial cleft, a missing or underdeveloped nasal tip, and a widow's peak hairline. Frontonasal dysplasia is mostly inherited and caused by the ALX genes (ALX1, ALX3, and ALX4). We report a rare case of a frontonasal dysplasia patient with mild hypertelorism, a broad nasal root, an underdeveloped nasal tip, an accessory nasal tag, and a widow's peak. We used soft tissue re-draping to achieve aesthetic improvements.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제27권1호
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• pp.92-96
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• 2001

Velopharyngeal function refers to the combined activity of the soft palate and pharynx in closing and opening the velopharyngeal port to the required degree. In normal speech, various muscles of palate & pharynx function as sphincter and occlude the oropharynx from the nasopharynx during the production of oral consonant sounds. Inadequate velopharyngeal function caused by neurologic disorder - cerebral apoplexy, regressive diseases - disseminated sclerosis, Parkinson's disease, congenital deformity - cleft palate, cerebral palsy and etc. may result in abnormal speech characterized by hypernasality, nasal emission and decreased intelligibility of speech due to weak consonant production. In our study, we constructed speech aids prosthesis - Palatal lift in acquired idiophathic VPI patient and assessed velopharyngeal function with various diagnostic instruments which can evaluate the speech characteristics objectively.

• 대한장애인치과학회지
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• 제10권2호
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• pp.101-105
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• 2014

Moebius syndrome is a rare, congenital neurological disease involving facial paralysis and limitation of eye movements. It results from maldevelopment of the sixth and seventh cranial nerves. Dental features of this syndrome include micrognathia, microstomia, tongue deformity, cleft palate, hypoplasia of the teeth, and congenital missing teeth. A 7-year-old female with Moebius syndrome was referred from a local dental clinic for caries treatment. She presented with facial paralysis and microstomia. Oral findings included multiple caries with enamel hypoplasia, congenital missing teeth, and tongue deformity. Dental treatments including restorative and preventive procedures were performed. Oral findings and management aspects of Moebius syndrome for this case are discussed. Early evaluation and multidisciplinary care are needed for children with Moebius syndrome.

• 대한두개안면성형외과학회지
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• 제13권1호
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• pp.57-59
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• 2012

Purpose: Congenital sinus of the upper lip is extremely rare and only 3 cases have been reported domestically. We report a case of congenital sinus of midline upper lip, which was found in an adolescent patient. Methods: A 14-year-old girl presented with a small pit on midline of the upper lip, which was visible at birth. The patient had never been treated for the congenital sinus because it was asymptomatic. Surgical excision under local anesthesia was performed. Results: The sinus had a tract extending into 5 mm posteroinferior and had not penetrated the oral cavity. Histological examination showed a fistulous tract lined by keratinized squamous epithelium. After complete excision, there was no recurrence and we obtained a satisfactory cosmetic result. Conclusion: Congenital sinus of the midline upper lip is extremely rare. This is a special case that is reported because it did not cause symptoms for the patient until she reached adolescence.