• Imaging Science in Dentistry
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• 제54권1호
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• pp.13-24
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• 2024

Purpose: Pycnodysostosis (PYCD), an autosomal recessive syndrome, is characterized by an imbalance in bone remodeling that produces various clinical and radiographic craniofacial manifestations. This review represents a systematic examination of these manifestations, as well as oral features associated with PYCD. Materials and Methods: A systematic review was conducted across 8 databases from February to March 2023. The search strategy focused on studies reporting cases of PYCD that examined the clinical and radiographic craniofacial and oral characteristics associated with this syndrome. Results: The review included 84 studies, encompassing a total of 179 cases of PYCD. More than half of the patients were female (55.3%), and the mean age was 14.7 years. Parental consanguinity was reported in 51.4% of the cases. The most common craniofacial clinical manifestation was a prominent nose, observed in 57.5% of cases. Radiographically, the most frequently reported craniofacial characteristics included the presence of an obtuse mandibular angle (84.3%) and frontal cranial bosses(82.1%). Clinical and radiographic examinations revealed oral alterations, with micrognathia present in 62.6% of patients and malocclusion in 59.2%. Among dental anomalies, tooth agenesis was the most commonly reported, affecting 15.6% of patients. Conclusion: Understanding the clinical and radiographic craniofacial features of PYCD is crucial for dental professionals. This knowledge enables these clinicians to devise effective treatment plans and improve patient quality of life.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.10-13
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• 2016

Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported. In this report, we describe a 1-year-old girl presenting with ptosis of the left upper eyelid, right auricular deformity, high-arched palate, delayed dentition, simian line on the right hand, microcephaly, and developmental delay. In this patient, we identified a deletion in the chromosome 11q13.2-q13.3 (2.75 Mb) region by using an array-comparative genomic hybridization analysis. The deletion in chromosome 11q13 results in a syndrome characterized by variable clinical manifestations. Some of these manifestations involve craniofacial dysmorphology and require a functional workup for hearing, ophthalmic examinations, and long-term dental care.

• 대한두개안면성형외과학회지
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• 제21권1호
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• pp.64-68
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• 2020

The coexistence of craniofacial cleft and bilateral choanal atresia has only been reported in three cases in the literature, and only one of those cases involved a Tessier number 3 facial cleft. It is also rare for bilateral choanal atresia to be found in adulthood, with 10 previous cases reported in the literature. This report presents the case of a 19-year-old woman with a Tessier number 3 facial cleft who was diagnosed with bilateral choanal atresia in adulthood. At first, the diagnosis of bilateral choanal atresia was missed and septoplasty was performed. After septoplasty, the patient's symptoms did not improve, and an endoscopic examination revealed previously unnoticed bilateral choanal atresia. Computed tomography showed left membranous atresia and right bony atresia. The patient underwent an operation for opening and widening of the left choana with an image-guided navigation system (IGNS), which enabled accurate localization of the lesion while ensuring patient safety. Postoperatively, the patient became able to engage in nasal breathing and reported that it was easier for her to breathe, and there were no signs of restenosis at a 26-month follow-up. The patient was successfully treated with an IGNS.

• 치과방사선
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• 제23권1호
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• pp.103-114
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• 1993

The purpose of this study was to determine whether any difference existed in craniofacial morphology between parents of children with cleft lip and/or palate and parents of children without cleft lip and/or palate as well as the characteristics of craniofacial morphology in parents of children with cleft lip and/or palate. Thirty three measurements of the various regions of cranium and face were obtained from lateral cephalometric radiograms in parents of 28 children with cleft lip and palate, 18 children with cleft lip, and 22 children with cleft palate. There were 28 couples and 40 single parents in this sample. There were 92 individuals including 41 males and 51 females. The measurements were compared with those in control subjects, including 40 adult males and 40 adult females, who had no history of craniofacial abnormalities. The total sample was compared for the sex independently. The obtained results were as follows. 1. In the cranium, both parents of cleft children had significantly shorter posterior cranial base length(S-Ba). 2. In the upper face, a significantly shorter anteroposterior length of maxilla(A'-Ptm'), particularly in the anterior region (A'-K), anterior facial depth(A-SBaL), posterior facia! height(Ptm'-SNL) and relation of subnasale to the cranial base (∠BaN'Sn) were noted in fathers of cleft children. But, all measurements were not found to be significantly different between experimental group and control group in all mothers. 3. In the lower face, both parents of cleft children showed a significantly greater Y axis angle(∠NSGn) and ramal plane angle(∠SNL-RP) in fathers of cleft children. Thus both patents showed a posteriorly rotation of mandible. The thickness of the lower lip(B-B') was significantly thicker in fathers of cleft children. 4. In the facial profile, a significantly shorter posterior facial height(S-Go) and greater angle of soft tissue facial convexity (∠BaN'Pog') were noted in the fathers of cleft children. But, all measurements were not found to be significantly different between experimental group and control group in all mothers.

• Clinical and Experimental Pediatrics
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• 제46권6호
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• pp.597-601
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• 2003

저자들은 저출생 체중과 호흡 곤란을 주소로 출생 직후 이송 된 여아에서, 진찰상 안면과 골격계 기형 소견 보여 말초 혈액에서 시행한 염색체 핵형 검사에서 trisomy 9, low level mosaic type으로 진단되었던 1례를 경험하였기에 보고하는 바이다.

• 대한두개안면성형외과학회지
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• 제13권1호
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• pp.60-62
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• 2012

Purpose: Supernumerary nostril, also known as triple nostril or accessory nostril, is one of the extremely rare congenital nasal deformities which includes an additional nostril. Since Lindsey reported the first case of a supernumerary nostril, only 34 cases of supernumerary nostril have been reported world widely. And there was no any domestic case. In the present case, we described a case of supernumerary nostril and reviewed all the literature cases of supernumerary nostril. Methods: A 10-month-old female patient visited to the authors with an additional nostril located above her right nostril, which had been present since birth. Antenatal history was uneventful and the infant's birth was normal. On physical examination there were no other abnormalities and additional nostril was communicating with ipsilateral normal nasal cavity. We performed fistulectomy and local flap for the correction. Results: After 7 months postoperatively, the patient was doing well. The functional outcome was excellent and the cosmetic result was satisfactory. During the long term follow-up for 8 years, there were no specific problems. Conclusion: In supernumerary nostril, preoperative evaluation of other abnormalities is very important and we advocate that corrective surgery can be performed at an early age for patient's psychosocial development.

• 대한두개안면성형외과학회지
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• 제9권1호
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• pp.41-44
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• 2008

Cleft palate and congenital alveolar synechia is a rare syndrome. Only eight cases have been previously reported. It consists of a spectrum of facial anomalies always including cleft palate and congenital alveolar synechiae without other abnormalities. This report described an unusual case of congenital alveolar synechial band spanning posterior alveolar of the two jaws with cleft palate. Previously reported cases showed bilaterally or anteriorly located fibrous band. In our department, a new born revealed unilateral posterior synechia. Under brief intravenous sedation, synechium was divided using bipolar diathermy in the nursery at 3 days of age because of poor feeding. This division allowed full jaw opening after brief passive exercise. The patient is growing and maturing as expected with no complications. This patient is supposed to be the first reported case of isolated unilateral alveolar synechium combined with cleft palate in the worldwide.

• 대한두개안면성형외과학회지
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• 제20권6호
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• pp.405-407
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• 2019

Due to the variety in the shape of dysmorphic cartilage, tragus reconstruction is one of the most challenging goals in otoplasty. The authors describe a method to reconstruct a prominent tragus in a simple way suitable for accounting for the size, shape, and location of the remaining ear. We present a case of tragus deformity in an 11-year-old female patient after a previous excision of pretragal skin tags. There was a small remnant of the deeply located dystopic cartilage in a horizontal orientation. The dystopic cartilage was used to reconstruct the tragus using a chondrocutaneous transposition flap. Only a small portion of the pre-existing cartilage was used to create a chondrocutaneous transposition flap that supplemented the portion of cartilage during tragus reconstruction. The result was a new tragus that showed acceptable improvement in shape, location, and projection. Patients with a small portion of pre-existing cartilage near the tragal wall may benefit from the use of this method for tragus reconstruction.

• 대한두개안면성형외과학회지
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• 제21권6호
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• pp.380-383
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• 2020

Schwannomas, which originate from Schwann cells in the peripheral nervous system, are slowg-rowing and uncommon benign tumors. Most schwannomas (90%) occur in isolation, and multiple occurrences are a characteristic feature of neurofibromas. Schwannomas of the nose and nasal tip are particularly unusual. Although a few cases of schwannomas of the sinusoidal tract and nasal septum have been reported, schwannomas arising from the nasal dorsum area and tip are extremely rare. Sensory abnormalities are also a very rare symptom. We excised a schwannoma on the nasal dorsum through direct incision and a schwannoma on the nasal tip through open rhinoplasty. No postoperative complications involving recurrence, hematoma, or infection occurred. The possibility of neurological changes should be considered in cases of an abnormality in the peripheral nervous system. Schwannoma must be kept in mind as a possible cause of neurological changes localized to a specific dermatome, and should always be considered in the differential diagnosis of a mass on the nose.

• 대한두개안면성형외과학회지
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• 제24권4호
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• pp.145-158
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• 2023

Vascular anomalies encompass a variety of malformations and tumors that can result in severe morbidity and mortality in both adults and children. Advances have been made in the classification and diagnosis of these anomalies, with the International Society for the Study of Vascular Anomalies establishing a widely recognized classification system. In recent years, notable progress has been made in genetic testing and imaging techniques, enhancing our ability to diagnose these conditions. The increasing sophistication of genetic testing has facilitated the identification of specific genetic mutations that help treatment decisions. Furthermore, imaging techniques such as magnetic resonance imaging and computed tomography have greatly improved our capacity to visualize and detect vascular abnormalities, enabling more accurate diagnoses. When considering reconstructive surgery for facial vascular anomalies, it is important to consider both functional and cosmetic results of the procedure. Therefore, a comprehensive multidisciplinary approach involving specialists from dermatology, radiology, and genetics is often required to ensure effective management of these conditions. Overall, the treatment approach for facial vascular anomalies depends on the type, size, location, and severity of the anomaly. A thorough evaluation by a team of specialists can determine the most appropriate and effective treatment plan.