• Clinical and Experimental Pediatrics
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• v.45 no.5
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• pp.711-715
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• 2002

The 18q-syndrome is a deletion disorder that occurs in humans. Clinical symptoms are mental retardation, craniofacial anomalies, skeletal deformity, seizure, and hearing loss. 18q- deletion occurs over a broad region, spanning the interval from 18q22.2 to 18qter rather than a single critical region containing 18q. We experienced a case of 18q-syndrome in a male child. It was diagnosed by clinical and chromosomal study. He was a 15month-old infant who was admitted because of prolonged fever and vomiting. And he manifested a depressed midface, esotropia, anhydrosis, and developmental delay. Peripheral blood chromosome studies showed deleted chromosomal material at the distal part of the long arm of chromosome 18. He showed right hydronephroureterosis on IVP. So, he was diagnosed as 18q-syndrome with right hydronephroureterosis and anhydrosis. We report this syndrome with a review and related literature.

• Archives of Plastic Surgery
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• v.48 no.6
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• pp.630-634
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• 2021

To date, there have been no reports of patients showing a Tessier number 7 cleft with unilateral complete cleft lip and palate. Furthermore, no studies have established the sequence, plan, or timing of surgical methods for treating patients presenting the above anomalies simultaneously. We report a case of a Tessier number 7 cleft with unilateral complete cleft lip and palate. Two months after birth, lip adhesion was performed on the unilateral complete cleft lip and total excision was performed on the skin tag. At 4 months of age, Tessier number 7 cleft was corrected. At 6 months of age, surgery involving two small triangular flaps was performed on the unilateral incomplete cleft lip after performing lip adhesion. At 13 months of age, two-flap palatoplasty with a vomer flap was performed on the complete cleft palate. At 6 years of age, open rhinoplasty was performed on the unilateral cleft lip nose deformity. At 9 years of age, bone grafting was performed for the alveolar cleft. At follow-up appointments up to 13 years of age, there were no major complications. Here, we present this patient, surgical procedures and timelines, and show our results demonstrating good postoperative outcomes.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.15 no.1
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• pp.65-69
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• 2019

Wolf-Hirschhorn syndrome(WHS) is a congenital disorder caused by deletions of the short arm of chromosome 4. The most common characteristics are mental and growth retardation, dietary disorder and craniofacial features with a characteristic 'Greek warrior helmet' appearance. The dental characteristic of WHS includes delayed development, tooth agenesis, clefts, microdontia, taurodontism, and severely worn dentition. The purpose of this case report is to describe the dental treatment of a patient with WHS. 3-year-old boy with WHS visited the Seoul National University Dental Hospital for dental treatment. He had difficulty with nasotracheal intubation because of craniofacial anomalies and also had poor oral hygiene due to a limitation of mouth opening and dietary disorder. Due to his airway problem, behavior management and severity of dental conditions, dental treatment was performed under general anesthesia. This case suggests general anesthesia can be chosen with WolfHirschhorn syndrome patients to safely care for their dental problems.

• The korean journal of orthodontics
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• v.33 no.6 s.101
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• pp.485-497
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• 2003

The form and function of the craniofacial structure critically depend on genetic information. With recent advances in the molecular technology, genes that are important for normal growth and morphogenesis of the craniofacial skeleton are being rapidly uncovered, shaping up modem craniofacial biology. One of them is fibroblast growth factor receptor 2 (FGFR2). Specific point mutations in the. FGFR2 gene have been linked to Apert syndrome, which is characterized by premature closure of cranial sutures and craniofacial anomalies as well as limb deformities. To study pathogenic mechanisms underlying craniosynostosis phenotype of Apert syndrome, we used a transgenic approach; an FGFR2 minigene construct containing an Apert mutation (a point mutation that substitute proline at the position 253 to arginine; P253R) was introduced into fertilized mouse germ cells by DNA microinjection. The injected cells were then allowed to develop into transgenic mice. We used a bone-specific promoter (a DNA fragment from the type I collagen gene) to confine the expression of mutant FGFR2 gene to the bone tissue, and asked whether expression of mutant FGFR2 in bone is sufficient to cause the craniosynostosis phenotype in mice. Initial characterization of these mice shows prematurely closed cranial sutures with facial deformities expected from Apert patients. We also demonstrate that the transgene produces mutant FGFR2 protein with increased functional activities. Having this useful mouse model, we now can ask questions regarding the role of FGFR2 in normal and abnormal development of cranial bones and sutures.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.8 no.2
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• pp.113-117
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• 2012

Axenfeld-Rieger syndrome (ARS) is a rare disorder with variable morphology characterized by malformations of the anterior segment of the eye such as iris hypoplasia, iridocorneal adhesions, corectopia and polycoria. Craniofacial and dental anomalies are also regularly reported in connection with ARS. Dental features include hypodontia in primary and permanent dentition, microdontia, short roots and abnormally shaped teeth. The patient in this case is a 14-year-old girl who has visited Seoul National Dental Hospital in 2002 for the first time. A panorama was taken on the day of her first visit, and total absence of maxillary anterior dentition and mandibular premolars were observed. The patient was on a treatment schedule by the department of ophthalmology at Seoul National Hospital for a morphological dyplasia of the pupil and she was diagnosed with ARS. Periodic panoramic observations were performed followingly, and she was finally diagnosed of congenital missing of maxillary anteriors and mandibular second premolars. In 2009, composite resin build-ups of maxillary primary central incisors were performed, and she has been on her regular follow-ups until now.

• Imaging Science in Dentistry
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• v.44 no.3
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• pp.193-198
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• 2014

Purpose: The present study was aimed to investigate the variation of soft palate morphology in different age and gender groups. The correlations of radiographic velar length (VL), velar width (VW), pharyngeal depth (PD), and Need's ratio with soft palate variants were also studied in the North Indian subpopulation. Materials and Methods: The study sample consisted of 300 subjects aged between 15 and 45 (mean: 31.32) years. The velar morphology on lateral cephalograms was examined and grouped into six types. The results obtained were subjected to a statistical analysis to find the correlation between variants of the soft palate with gender and different age groups. Results: The most frequent type of soft palate was leaf shaped (48.7%), and the least common was crook shaped (3.0%) among both the genders and various age groups, showing a significant correlation. The mean VL, VW, and PD values were significantly higher in males and significantly correlated with the types of soft palate. A significant correlation was observed between the mean VL, VW, PD, and Need's ratio with various age groups, showing an inconsistent pattern with an increase in age. The types of soft palate, gender, and Need's ratio were also significantly correlated, with an overall higher mean value of the Need's ratio among female subjects and the S-shaped soft palate. Conclusion: The knowledge of a varied spectrum of velar morphology and the variants of the soft palate help in a better understanding of the velopharyngeal closure and craniofacial anomalies.

• 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.

• Clinical and Experimental Pediatrics
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• v.53 no.10
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• pp.863-871
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• 2010

The prevalence of pediatric obstructive sleep apnea syndrome (OSAS) is approximately 3% in children. Adenotonsillar hypertrophy is the most common cause of OSAS in children, and obesity, hypotonic neuromuscular diseases, and craniofacial anomalies are other major risk factors. Snoring is the most common presenting complaint in children with OSAS, but the clinical presentation varies according to age. Agitated sleep with frequent postural changes, excessive sweating, or abnormal sleep positions such as hyperextension of neck or abnormal prone position may suggest a sleep-disordered breathing. Night terror, sleepwalking, and enuresis are frequently associated, during slow-wave sleep, with sleep-disordered breathing. Excessive daytime sleepiness becomes apparent in older children, whereas hyperactivity or inattention is usually predominant in younger children. Morning headache and poor appetite may also be present. As the cortical arousal threshold is higher in children, arousals are not easily developed and their sleep architectures are usually more conserved than those of adults. Untreated OSAS in children may result in various problems such as cognitive deficits, attention deficit/hyperactivity disorder, poor academic achievement, and emotional instability. Mild pulmonary hypertension is not uncommon. Rarely, cardiovascular complications such as cor pulmonale, heart failure, and systemic hypertension may develop in untreated cases. Failure to thrive and delayed development are serious problems in younger children with OSAS. Diagnosis of pediatric OSAS should be based on snoring, relevant history of sleep disruption, findings of any narrow or collapsible portions of upper airway, and confirmed by polysomnography. Early diagnosis of pediatric OSAS is critical to prevent complications with appropriate interventions.

• Journal of Genetic Medicine
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• v.6 no.1
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• pp.87-90
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• 2009

Cardiofaciocutaneous (CFC) syndrome is characterized by dysmorphic features, cardiac anomalies, and cutaneous abnormalities. CFC syndrome belongs to the class of Noonan-related diseases. CFC syndrome can be clinically differentiated from other Noonan-related diseases by the distinct craniofacial features of sparse hair, a hypoplastic supraorbital ridge, exophthalmos and nystagmus, and skin manifestations such as ichthyosis and hyperkeratosis. However, phenotypes can overlap among Noonan-related syndromes, including CFC syndrome. Recently, several genes in the RAS-MAPK pathway have been identified as disease-causing genes for Noonan-related diseases. Here, we report on a Korean girl diagnosed with CFC syndrome caused by a V-raf murine sarcoma viral oncogene homolog B1 (BRAF) gene mutation, and we discuss the phenotype-genotype heterogeneities in Noonan syndrome and Noonan-related diseases.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.27 no.2
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• pp.183-187
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• 2005

The coronal approach has been used for over a century by neurosurgeons to access to the anterior cranium. Indications for the coronal approach expanded from use in the correction of congenital skeletal anomalies to applications in acute maxillofacial trauma and secondary deformity correction, oncologic surgery and reconstruction, and esthetic surgery. Complications were such as injury to frontal branch of the facial nerve, motor nerve paralysis, hematoma under flap, trismus, ptosis, epiphora, infection and anterior temporal depression. $Medpor^{(R)}$ is made up of dense polyethylene connected in porous structures. It is easily shapable without collapsing the pores due to it's hardness and tissue growth takes place at the porosities. Based on these advantages, $Medpor^{(R)}$ has been used in augmentation and restoration in craniofacial defect. A temporal depression after the coronal approach for treatment of Le Fort III fracture was successfully reconstruction with $Medpor^{(R)}$ and we report this case with review of literature.