• Clinical and Experimental Pediatrics
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• v.46 no.6
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• pp.597-601
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• 2003

Trisomy 9 mosaic syndrome is a rarely reported chromosomal abnormality with high incidence of intrauterine growth retardation and perinatal death. Even a baby lives, he has severe mental retardation and significant malformations. The incidence and severity of malformations and mental retardation correlate with the percentage of trisomic cells in the different tissues. The characteristic craniofacial abnormalitis are narrow bifrontal diameter, up-slanted and short palpebral fissures, a prominent nasal bridge with a short root, a prominent lip covering a receding lower lip, low-set, posteriorly rotated, and misshapen ears. Ventricular septal defect is a main cardiac abnormality. Bony hypoplasia and dislocated hips have been frequently reported. Central nervous system, hepatobiliary, gastrointestinal and genitourinary abnormalities also had been reported. The authors report a baby who had characteristic abnormalities of trisomy 9 mosaicism with narrow temples, up-slanted palpebral fissures, a bulbous nose, thin and protruding upper lip, low set and malformed ears, hyperextended wrist and overlapping fingers. Cytogenetic analysis performed to confirm the chromosomal abnormality revealed trisomy 9, low level mosaic type.

• Journal of the korean academy of Pediatric Dentistry
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• v.31 no.1
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• pp.120-125
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• 2004

Cornelia de Lange syndrome is a disorder of unknown etiology resulting in an syndrome characterized by specific dysmorphic features. Therefore this syndrome is diagnosed only by clinical features and other examinations for diagnostic aim are not effective. There are general growth retardation, mental retardation, hypertrichosis, confluent eye brows, low hair line, broad nasal bridge, anteverted nose tip, malformed limbs, webbing of toes, heart defect, gastroesophageal reflux disease, ear and ocular problems. Features associated oral structures are micrognathia, delayed eruption of teeth, cleft lip, cleft plate, thin upper lip and downturned angles of mouth. These are cases about two children who visited Department of Pediatric Dentistry of Chonbuk National University because of dental caries with Cornelia do Lange syndrome.

• Archives of Craniofacial Surgery
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• v.20 no.6
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• pp.382-387
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• 2019

Background: Defects of the nasal ala and tip have a complex three-dimensional structure that makes them challenging to reconstruct. Many reconstructive options have been described for nasal ala and tip defects, ranging from primary closure to local flaps and skin grafts. However, it is difficult to determine which method will yield the best cosmetic results in each individual case. Thus, the purpose of this study was to determine which surgical procedures for reconstructing defects of the nasal ala and tip have better cosmetic results. Methods: From 2008 to 2018, 111 patients underwent surgery to reconstruct skin defects after resection of skin cancer in the nasal ala or tip. Their charts were reviewed to obtain data on age, sex, surgical location, size of the defect, surgical method, and cosmetic results using a visual analog scale (VAS). Results: For nasal ala reconstruction, the most commonly used surgical technique was the nasolabial flap (n= 42). This method also had the highest VAS score (7/10). The most commonly selected surgical method for nasal tip reconstruction was the bilobed flap (n= 13), and bilobed flaps and primary closure had the highest VAS score (7/10). Conclusion: Nasolabial flaps showed excellent cosmetic results for the reconstruction of nasal ala defects, while primary closure and bilobed flaps yielded excellent cosmetic results for the reconstruction of nasal tip defects.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.1
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• pp.60-65
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• 2014

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disease caused by a defect in cholesterol biosynthesis. This mutation encodes 7-dehydrocholesterol reductase (DHCR7), which is located on chromosome 11q13. It is characterized by typical facial appearances, microcephaly, small up-turned nose, cleft palate, syndactyly, and is correlated with cardiac, gastrointestinal and genital malformations. There may also be mental retardation, behavioral problems and growth retardation. It causes a broad spectrum of effects, ranging from a mild disorder of learning and behavior to a lethal malformation. There are four reports of Smith-Lemli-Opitz syndrome in Korean children. Here, we describe a two months old female with microcephaly, toe syndactyly and a cleft soft palate who was diagnosed as SLOS with c. 1054 C>T (p.R352W) and c.907G>A (p. G303R) mutations.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.21 no.4
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• pp.401-406
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• 1999

Secondary deformities of the lip and nose in individuals with repaired unilateral and bilateral clefts may vary in severity, depending on the state of the original defect, the care taken in the initial surgical procedure, the pattern of the patient's facial growth, and the effectiveness of interceptive orthodontic technique. Because each patient has a unique combination of deformities, their surgical reconstruction usually requires the modification and combination of several surgical techniques. Residual lip deformities after primary repair may be esthetic or functional and include scars, skin shortage or excess(vertical and transverse), orbicularis oris muscle malposition or diastasis. The key to accurate repair of secondary cleft lip deformities is a precise diagnosis. This requires observation of the patient in animation and repose. The quality of the scar is not the only factor determining the overall appearance of the lip. Observing the patient in the animated position is critical to assess muscular function. Factors that require precise analysis include lip length, the appearance of the Cupid's bow and philtrum, and nasal symmetry. Only after this detailed analysis can a decision be made as to wether a major or minor deformity exists. We report successful cases using various techniques for the secondary lip deformities.

• Journal of Genetic Medicine
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• v.18 no.2
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• pp.142-146
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• 2021

Alagille syndrome (AGS) is a rare autosomal dominant inherited disorder, with major clinical manifestations of bile duct paucity, cholestasis, cardiovascular anomaly, ophthalmic abnormalities, butterfly vertebrae, and dysmorphic facial appearance. It is caused by heterozygous mutations in JAG1 or NOTCH of the Notch signaling pathway presenting with variable phenotypic penetrance and involving multiple organ systems. The following case report describes a unique case of a 16-year-old female with AGS who presented with the primary complaint of renovascular hypertension. She had a medical history of ventricular septal defect and polycystic ovary syndrome. The patient had a dysmorphic facial appearance including frontal bossing, bulbous tip of the nose, a pointed chin with prognathism, and deeply set eyes with mild hypertelorism. Stenoocclusive changes of both renal arteries, celiac artery, lower part of the abdominal aorta, and left intracranial artery, along with absence of the left internal carotid artery were found on examination. Whole exome sequencing was performed and revealed a pathologic mutation of JAG1, leading to the diagnosis of AGS. Reverse phenotyping detected butterfly vertebrae and normal structure and function of the liver and gallbladder. While the representative symptom of AGS in most scenarios is a hepatic problem, in this case, the presenting clinical features were the vascular anomalies. Clinical manifestations of AGS are diverse, and this case demonstrates that renovascular hypertension might be in some cases a presenting symptom of AGS.

• Archives of Plastic Surgery
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• v.49 no.2
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• pp.184-194
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• 2022

The face and the external nose define an individual's physical appearance. Nasal deformities can cause facial disfigurement along with unwanted psychological repercussions. Nasal deformities range in severity, with the most severe cases being indications for a rhinectomy, due to the complexity of the nasal defect. According to published literature, there is no consensus among otolaryngologists and plastic surgeons on which technique or flap use is preferred in terms of complications, aesthetic outcome, or patient satisfaction. The goal of this study is to provide a comprehensive analysis of published studies on nasal reconstruction following rhinectomy. Using the Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols guidelines for writing systematic reviews, a systematic review was conducted. Four databases were searched using a search strategy. These articles were then imported into the COVIDENCE software and went screening and thorough article review. After screening 2,237 articles, 23 studies were then extracted for data collection analysis. We collected data from 12 case series, 4 case studies, 1 prospective case series, and 4 retrospective chart review studies. The most commonly reported flaps were forehead flaps, superior extended nasal myocutaneous island, forearm free flaps, anterolateral thigh (ALT) free flap, medial femoral condyle free flap (n = 8), and zygomaticus implants (n = 6), and retained nasal prosthesis. Although not specifically indicated by a certain number, the most common indication for the rhinectomy was malignancy, followed by traumas, postsurgical complications, radionecrosis, and congenital nasal malformations.

• Tuberculosis and Respiratory Diseases
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• v.47 no.1
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• pp.97-102
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• 1999

Multiple symmetric lipomatosis(Madelung's disease) seems to represent a relatively common disease in Europe but has not been described in the Korean literature. It is characterized by highly typical symmetric deposits of subcutaneous fat on the neck, arms, and upper part of the trunk. The localized increase of adipose tissue is hyperplastic in nature and probably results from a local defect in adrenergic stimulated lipolysis. Multiple symmetric lipomatosis is frequently, but inconstantly, associated with alcoholism, liver disease, glucose intolerance, and hyperuricemia, but their etiologic role remains to be established. Clinical importance is the apparent high incidence of malignant tumors of the upper airways requiring through ear, nose, and throat and internal examination of all patients. Another importance is possibility of airway obstruction due to mass effect. Dietary treatment and weight loss are of limited value. Surgical treatment gives only temporary relief and should be restricted to patients with functional impairment. We report a case of a 63-year-old man with multiple symetric lipomatosis and alcoholism.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.11 no.2
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• pp.1-10
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• 1989

The major causes of the facial bone fractures are fractures are automobile collision or other accident, and fights. Of the facial bone fractures, the nasal bone fractures are monst common. According to Schroeder et al., 50% of facial bone fractures are isolated fractures of the nasal pyramid. But the fractured nasal bone is not immediately treated as other facial bone fractures. And it is necessary to delay the treatment of the combined nasal bone fractures with other jaw bone fractures because of the difficult anesthetic techniques. Therefore there are many residual nasal deformities following a fracture; nasal hump, saddle nose and alar rim defect. Many authors have suggested the methods to correct the post-traumatic nasal deformities. We have treated several patients with several methods and this paper presents the operating methods and results.

• Journal of the korean academy of Pediatric Dentistry
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• v.26 no.4
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• pp.636-643
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• 1999

Ectodermal dysplasia is a genetic birth defect in which at least abnormally develop two structures derived from the ectoderm. It is usually inherited in autosomal dominant or autosomal recessive pattern. Oral manifestations are oligodontia, anodontia, dysmorphic teeth(conical shape), decreased occlusal vertical dimension and alveolar bone. Extraoral signs may include decreased or absent sweat glands, sparse and fine hair, saddle nose, hearing loss and decreased production of body fluids including saliva. Most affected children require extensive dental treatment to restore their appearance and help the development of a positive self image. The patient's overclosed profile was due to a decreased vertical dimension. The use of overdenture is to preserve erupted teeth, to accomodate the newly constructed occlusal plane, to improve retention and stability of denture and to maintain the remaining alveolar bone. The restoration of vertical dimension improved the child's speech, swallowing, and eating. Growth continue until the age of approximately 18. As child grows, replacement dentures will have to be fabricated primarily to accomodate increasing vertical dimension and changing dentition. Implants may be indicated later if the alveolar bone is adequate. Periodic recall visits are advised, to monitor the dentures during periods of growth and development, and eruption of the permanent teeth.