• Journal of Genetic Medicine
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• v.15 no.2
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• pp.97-101
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• 2018

Tricho-rhino-phalangeal syndrome (TRPS) is a hereditary disorder characterized by craniofacial and skeletal abnormalities. A mutation of the TRPS1 gene leads to TRPS type I or type III. A 20-year-old male patient visited our neurologic department with chronic fatigue. He presented with short stature, sparse hair, pear-shaped nose, and brachydactyly. Radiologic study showed short metacarpals, metatarsals with cone-shaped epiphyses, hypoplastic femur and hip joint. Panel sequencing for OMIM (Online Mendelian Inheritance in Man) listed genes revealed a de novo heterozygous frameshift mutation of c.1801_1802delGA (p.Arg601Lysfs*3) of exon 4 of the TRPS1 gene. The diagnosis of TRPS can be challenging due to the rarity and variable phenotype of the disease, clinicians should be aware of its characteristic clinical features that will lead a higher rate of diagnosis.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.48 no.2
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• pp.71-78
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• 2022

This study was conducted to review the efficacy of different sources of stem cells in bone regeneration of cleft palate patients. The majority of previous studies focused on the transplantation of bone marrow mesenchymal stem cells. However, other sources of stem cells have also gained considerable attention, and dental stem cells have shown especially favorable outcomes. Additionally, approaches that apply the co-culture and co-transplantation of stem cells have shown promising results. The use of different types of stem cells, based on their accessibility and efficacy in bone regeneration, is a promising method in cleft palate bone regeneration. In this regard, dental stem cells may be an ideal choice due to their efficacy and accessibility. In conclusion, stem cells, despite the lengthy procedures required for culture and preparation, are a suitable alternative to conventional bone grafting techniques.

• Archives of Craniofacial Surgery
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• v.18 no.1
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• pp.21-24
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• 2017

Background: In evaluation of craniosynostosis patients in terms of neurodevelopmental delay, positron emission tomography computed tomography (PET-CT) scan can be used to assess brain abnormalities through glucose metabolism. We aimed to determine the unnecessity of PET-CT in this study. Methods: Thirty-eight patients diagnosed with craniosynostosis who underwent distraction osteogenesis from October, 2010 to November, 2013 were reviewed. Magnetic resonance imaging (MRI) and PET-CT scan were carried out for evaluation of the brain structure and function, whereas X-ray and CT scan were taken for evaluation of the skull. Results: Nine patients reported abnormal MRI findings which were not significant, and five patients showed local problem on brain on PET-CT scan. No correlation was found among them. Conclusion: PET-CT evaluation of possible abnormal brain findings do not affect surgical planning or require additional therapy. Preoperative PET-CT scan is not the essential study to get any etiologic information of the disease consequences or to establish the treatment plan.

• Archives of Craniofacial Surgery
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• v.13 no.1
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• pp.54-56
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• 2012

Purpose: Dandy-Walker syndrome is a rare congenital brain malformation that occurs one in every 25,000-35,000 live births, mostly in females. It is characterized by cystic enlargement of the fourth ventricle, agenesis or hypogenesis of the cerebellar vermis and enlargement of the posterior fossa. In this report, the authors aimed to address a rare case of a 14-months-old female Dandy-Walker syndrome patient that is presented with submucous cleft palate. Methods: A 14-months-old female patient admitted to our outpatient clinic, via the department of pediatrics, with the complaints of nasal regurgitation, choking and breathing difficulties. She was diagnosed as Dandy-Walker syndrome by magnetic resonance imaging evaluation, at another hospital and underwent a shunt operation for the hydrocephalus continuing treatments. On physical examination, she had structural abnormality of bifid uvula, and palpable notch in the posterior surface of the hard palate. Her submucous cleft palate was corrected, which used a double opposing Z-plasty under general anesthesia. Results: In a follow-up period of 2 months, no complications, such as wound dehiscence, necrosis and infection occurred, which shows satisfactory results. She consulted with pediatric neurologists and physical therapists for further evaluation and management of the abnormalities in the central nervous system. Conclusion: Dandy-Walker syndrome patient with a cleft palate is a very rare case to find, which only a few cases are reported around the world. Authors would like to share this case of Dandy-Walker syndrome patient, with submucous cleft palate, who underwent a double opposing Z-plasty that shows satisfactory results.

• Archives of Craniofacial Surgery
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• v.13 no.1
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• pp.22-28
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• 2012

Purpose: In accordance to an increased interest in facial appearance and the popularization of computed tomography scanning, the number of diagnosis and treatment of blowout fractures has been increased. The purpose of this article is to review pure blowout fracture surgery through transconjunctival incision focusing on complications and their management. Methods: In this retrospective study, 583 patients, who had been treated for pure blowout fracture through transconjunctival incision from 2000 to 2009, were evaluated. Their hospital records were reviewed according to their sex, age, fracture site, preoperative presentations, time interval between trauma and surgery, and postoperative complications. Results: According to postoperative follow-up results, there were early complications that included wound dehiscence and infection (0.2%), hematoma (insomuch as extraocular movement is limited) (0.7%), lacriminal duct injury (0.5%), and periorbital nerve injury (0.7%). In addition, there were late complications that lasted more than 6 months, that included persistent diplopia (1.7%), extraocular movement limitation (0.9%), enophthalmos (1.0%), periorbital sensation abnormalities (1.0%), and entropion (0.5%). Conclusion: We propose the following guidelines for prevention of postoperative complications: layer by layer closure; bleeding control with the epinephrine gauzes, Tachocomb, and Tisseel; conjunctival incision 2 to 3 mm away from punctum; avoidance of excessive traction; performing surgical decompression and high dose corticosteroid therapy upon confirmation of nerve injury; atraumatic dissection and insertion of Medpor Barrier implant after securing a clear view of posterior ledge; using Medpor block stacking technique and BioSorb FX screw fixation; performing a complete resection of the anterior ethmoidal nerve during medial wall dissection; and making an incision 2 to 3 mm below the tarsal plate.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.34 no.4
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• pp.460-467
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• 2008

Pierre Robin sequence as a symptom triad of micrognathia, glossoptosis, and cleft palate results in upper airway obstruction and feeding problems. If mild, it is often managed in the prone position. When positional treatment fails, however, surgical intervention such as tongue-lip adhesion, tracheostomy, and mandibular distraction osteogenesis is mandatory to relieve airway obstruction. There has been growing interest in the application of distraction osteogenesis for the management of craniofacial abnormalities. The mandibular distraction osteogenesis to newborns may prevent the airway obstruction, decrease the potential tracheostomy, and reduce the likehood of orthognathic surgery after growth. We experienced an infant with Pierre Robin sequence who showed mandibular hypoplasia, glossoptosis, incomplete cleft palate, intermittent cyanos is, depression of the chest, and respiratory difficulty associated with airway obstruction. We treated the airway obstruction by tongue-lip adhesion at 2 weeks of age, and treated the mandibular retrognathism and depression of the chest byusing internal mandibular distraction osteogenesis at 7 month of age. The mandible moved forwardly, the upper airway space was enlarged, and the antero-posterior distance of the mandible was elongated after the mandibular distraction. Mandibular distraction osteogenesis may be a promising technique to avoid the need of tracheostomy and orthognathic surgery, and to correct airway obstruction in infants with congenital craniofacial malformation.

• Archives of Craniofacial Surgery
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• v.12 no.1
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• pp.58-62
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• 2011

Purpose: The focal ossification of auricular cartilage is an unusual clinical entity in which the ear becomes partially or totally rigid and immalleable. This condition may result from cold injury, local trauma, inflammation, or various systemic diseases. Patients may feel mild discomfort, but there are usually no other serious symptoms. We present a case of focal ossification of auricular cartilage in which the cause is unknown. Methods: A healthy 58-year-old man presented with a 2-year history of hard mass of right posterior auricular area. He denied any precipitating historical events like cold injury and inflammation. Routine testing did not demonstrate systemic abnormalities. Ultrasonographic examination revealed a $22{\times}10{\times}11mm$ sized heterogenous isoechoic mass showing an acoustic shadow. Results: Excisional biopsy was performed under local anesthesia. Histological examination revealed the ossification with deposition of trabecular bone in normal elastic cartilage. The patient was healed without any problems and satisfied with the result. Conclusion: We report clinical experience of focal ossification of auricular cartilage, which is quite a rare clinical entity. It should be considered that there is the possibility of ossification of cartilage when it meets the benign mass of the ear.

• Archives of Craniofacial Surgery
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• v.20 no.3
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• pp.170-175
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• 2019

Background: Cryptotia is a congenital anomaly in which the upper part of the retroauricular sulcus is absent and buried underneath the temporal skin. Various surgical techniques have been reported for the correction of cryptotia following Kubo's V-Y plasty in 1933. Conventional methods using a local skin flap, skin grafting, tissue expansion, Z-plasty, and any of these combined approaches can result in skin deficiency of the upper auricle. The aim of this study was to develop a new method that improves cosmetic results and has fewer complications. Methods: This study involved four patients in whom five cryptotia deformities were corrected using V-Y plasty and Z-plasty. After elevation of the flap, acellular dermal matrix (ADM; MegaDerm) that was over 5 mm in thickness was applied to the cephalo-auricular angle and positioned to enhance the projection of the ear. Lastly, the flap was transposed to complete the repair. Results: Between January 2014 and February 2018, cryptotia correction with ADM graft was performed in four patients. None of the patients developed a recurrence of cryptotia, and there were no postoperative complications such as wound infection, seroma formation, and dehiscence. In addition, the procedures resulted in a favorable cosmetic appearance. Conclusion: Based on these findings, i.e., no recurrence and a favorable cosmetic result, when using an ADM graft, it is suggested that this technique could be an alternative method of cryptotia correction. It could also lessen donor-site morbidity when compared to autologous cartilage grafting and be more cost-effective than using cartilage from a cadaver.

• Journal of Genetic Medicine
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• v.19 no.2
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• pp.105-110
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• 2022

The microdeletion syndrome of chromosome 2p15p16.1 (MIM: 612513) is an extremely rare contiguous gene deletion syndrome. Microdeletions of varying sizes in the 2p15-16.1 region are associated with developmental delay, intellectual disability, autism spectrum disorder, hypotonia, and craniofacial dysmorphism. Previous studies have identified two critical regions: the proximal 2p15 and distal 2p16.1 regions. BCL11A, PAPOLG, and REL genes play crucial roles in patients with 2p16.1 microdeletion. To our knowledge, only 39 patients have been reported as having 2p15p16.1 microdeletion syndrome. Here, we present another patient with 2p15p16.1 microdeletion syndrome. A nine-month-old boy was referred to our clinic for the psychomotor delay, facial dysmorphism, and congenital hypothyroidism. During his follow-up visits, he was diagnosed with global developmental delay, intellectual disability, abnormal behavior, hypotonia, microcephaly, and abnormal electroencephalography. Using a chromosomal microarray for genetic analysis, a novel, de novo, 622 kb microdeletion of 2p16.1 was identified as one of the critical regions of the 2p15p16.1 microdeletion syndrome. This is the first case of its kind in Korea. We have discussed our case and literature reviews to clarify the relationship between the genes involved and clinical phenotypes in 2p15p16.1 microdeletion syndrome.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.18 no.1
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• pp.17-25
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• 1996

There are many reports of the surgical management for the craniofacial abnormalities arising from the irradiation of the head and face for treatment of childhood cancers. Since the mordern combined-modality theraphy for childhood cancers began in the late 1960s and the early 1970s, recent reports have described the occular, dental and maxillo-facial abnormalities after irradiation in long-term survivors of cancers of the head and face. The resultant deformities may be known to be difficult to reconstruct with surgical techniques. This paper describes the late reconstructive surgery for the unilateral orbital and malar hypoplasia after eyeball enucleation and irradiation during childhood to correct the facial asymmetry and expand the contracted orbital socket into the functional dimension for the retaining eyeball prosthesis with spherical implant. We reports the satisfactory preliminary results from the midfacial osteotomy through the supero-lateral orbital rim and malar bone and the antero-lateral repositioning with the autogenous bone grafting in 26 year-old female patient who will be planned to make the new eyeball prosthesis by the department of ophthalmology.