• Journal of Genetic Medicine
• /
• v.16 no.1
• /
• pp.15-18
• /
• 2019

SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome: (S) short stature, (H) hyperextensibility of joints and/or inguinal hernia, (O) ocular depression, (R) Rieger anomaly, and (T) teething delay. Other key aspects of this syndrome not found in the mnemonic include lipodystrophy, triangular face with dimpled chin (progeroid facies, commonly referred to as facial gestalt), hearing loss, vision loss, insulin resistance, and intrauterine growth restriction (IUGR). 3q duplication syndrome is rare syndrome that occurs due to a gain of function mutation found at 3q25.31-33 that presents with a wide array of manifestations including internal organ defects, genitourinary malformations, hand and foot deformities, and mental disability. We present a case of a 2 year and 3 month old male with SHORT syndrome and concurrent 3q duplication syndrome. The patient presented at birth with many of the common manifestations of SHORT syndrome such as bossing of frontal bone of skull, triangular shaped face, lipodystrophy, micrognathia, sunken eyes, and thin, wrinkled skin (progeroid appearance). Additionally, he presented with findings associated with 3q duplication syndrome such as cleft palate and cryptorchidism. Although there is no specific treatment for these conditions, pediatricians should focus on referring patients to various specialists in order to treat each individual manifestation.

• Korean Journal of Cleft Lip And Palate
• /
• v.4 no.2
• /
• pp.19-27
• /
• 2001

This study was performed to determine the prevalence of hypodontia and hyperdontia of permanent teeth among Korean schoolchildren, and to compare differences in the prevalence between Korea, other country, and other ethnic groups. The sample consisted of 346 girls aged 6.9～0.3 yr and 375 boys aged 6.8～0.4 yr on whom a panoramic radiograph was taken at Yeonchun-Gun community in Korea. The prevalence of congenitally missing teeth (third molars excluded) was 6.7% in boys and somewhat higher, 9.5% in girls, and 8.0% for both sexes combined. On the average, number of missing teeth per affected child was 1.9 teeth. The most commonly congenitally missing teeth were the mandibular second premolar (32.7%), followed by the mandibular incisor (28.7%), the maxillary second premolar (16.7%), and the maxillary lateral incisors (10.2%). The prevalence of supernumerary teeth was 2.1 % in boys, 1.4% in girls, and 1.8% for both sexes combined. The most common supernumerary teeth were the mesiodens (76.9%), followed by the supernumerary premolar (23.1 %). The affected male-female ratio was 1.6: 1.0. The prevalence of congenital missing teeth in this study was similar to in studies of Japanese, Danish, American and German. The frequency of hyperdontia was lower in this study than in studies of Chinese children, Japanese and American.

• The Journal of Korea Assosiation for Disability and Oral Health
• /
• v.7 no.2
• /
• pp.123-126
• /
• 2011

Noonan syndrome (NS) is a developmental disorder characterized by dysmorphic facial features in association with short stature, mental retardation and congenital heart disease. NS may be sporadic or inherited as an autosomal dominant or recessive trait. The children with NS usually have ocular hypertelorism, downslanting palpebral fissures, low-set ears and a webbed neck, chest deformity. In addition, oral features include micrognathia, high arched palate, dental malocclusion, dental anomalies and rarely, cleft palate. The phenotype of NS bears similarities to that of Turner syndrome. However, NS occurs in both males and females with a normal sex chromosome 46, XX and 46, XY constitution. This case presents the intermittent treatment of an 8-year-old girl who was referred from a local clinic for the extraction of supernumerary teeth and treatment of dental caries. The focus of this case report is the oral aspects on NS and particularities of the dental treatment in subjects affected by this genetic disease.

• Archives of Plastic Surgery
• /
• v.48 no.5
• /
• pp.518-523
• /
• 2021

Epignathus is a rare congenital orofacial teratoma that arises from the sphenoid region of the palate or the pharynx. It occurs in approximately 1:35,000 to 1:200,000 live births representing 2% to 9% of all teratomas. We present the case of a newborn of 39.4 weeks of gestation with a tumor that occupied the entire oral cavity. The patient was delivered by cesarean section. Oral resection was managed by pediatric surgery. Plastic surgery used virtual 3-dimensional models to establish the extension, and depth of the tumor. Bloc resection and reconstruction of the epignathus were performed. The mass was diagnosed as a mature teratoma associated with cleft lip and palate, nasoethmoidal meningocele that conditions hypertelorism, and a pseudomacrostoma. Tridimensional technology was applied to plan the surgical intervention. It contributed to a better understanding of the relationships between the tumor and the adjacent structures. This optimized the surgical approach and outcome.

• The Journal of Korea Assosiation for Disability and Oral Health
• /
• v.3 no.2
• /
• pp.75-79
• /
• 2007

Background: Down's syndrome, or trisomy 21, is the commonest congenital chromosome anomaly. With improvement in medical care, these patients increasingly reach adulthood in spite of their physical maldevelopment and mental retardation. And, the number of those who required general anesthesia for dental treatment is increasing. Methods: We reviewed the 26 cases of 22 patients with Down's syndrome who underwent outpatient general anesthesia for dental treatment at the clinic for the disabled in Seoul National University Dental Hospital. Results: The mean age was 22 years. They all had severe mental retardation and some had congenital heart anomaly, epilepsy, hypothyroidism, acute leukemia, autism, cleft palate, and chronic renal failure. For anesthesia induction, 4 cases was needed physical restriction, but others showed good or moderate cooperation. Drugs used for anesthesia induction was thiopental (17 cases) and sevoflurane (9 cases). All patients received nasotracheal intubation and 3 cases needed difficult airway management. Mean total anesthetic time was $166{\pm}60$ min and staying time at PACU was $92{\pm}48$ min. There was no death or long term hospitalization because of severe complications. Conclusion: If general anesthesia is needed, pertinent diagnostic tests and workup about anomaly, and appropriate anesthetic planning are essential for safety.

• The Journal of Korea Assosiation for Disability and Oral Health
• /
• v.12 no.2
• /
• pp.92-95
• /
• 2016

Beckwith-Wiedemann syndrome comprises multiple congenital anomalies with a risk of development of childhood tumors. Macroglossia is the predominent finding in Beckwith-Wiedemann syndrome and other findings include postnatal somatic gigantism, abdominal wall defects, nevus flammeus of the face, congenital heart defects, and cleft palate. The aim of this case presentation is to describe the dental treatment of a child with Beckwith-Wiedemann syndrome. A 3-year-old boy with Beckwith-Wiedemann syndrome visited to the Seoul National University Dental Hospital for dental evaluation and treatment. Due to the multiple caries and poor cooperation, we planned to perform the dental procedure under general anesthesia. The dental procedure was successfully performed and there was no airway complications after extubation. This case suggests that general anesthesia may be useful for the patient with uncooperative Beckwith-Wiedemann syndrome, since macroglossia and laryngomalacia may exacerbates airway compromise during dental sedation.

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

• Archives of Craniofacial Surgery
• /
• v.14 no.2
• /
• pp.115-118
• /
• 2013

Craniosynostosis is a congenital anomaly in which cranial sutures close prematurely and restrict skull growth. In this paper, the case of two siblings, a male and a female, who were both diagnosed as craniosynostosis is reported. They underwent corrective osteotomy for cranial vault remodeling. A 22-month-old female infant who was brought to the department of plastic and reconstructive surgery of the authors' hospital was diagnosed with plagiocephaly. At the same time, her 7-month-old brother was diagnosed with brachycephaly. In the case of the female infant, corrective coronal osteotomy and supraorbital bar advancement were performed. Her brother underwent frontal advancement osteotomy using Tessier's tongue in the groove procedure. After the correction of the craniosynostosis, the two patients recovered in several days later, and the results were good in both cases cosmetically and functionally. They showed normal head circumference increasing curves and no symptom of functional disorder in their last follow-up. Isolated or nonsyndromic craniosynostosis is sporadic but mostly autosomal dominant. This paper presents a case of craniosynostosis with a genetic tendency; and although it occurred between siblings, the affected lesions differed. Thus, appropriate diagnosis and management in patients are needed.

• Archives of Craniofacial Surgery
• /
• v.11 no.1
• /
• pp.13-18
• /
• 2010

Purpose: Nasal defect can be caused by excision of tumor, trauma, inflammation from foreign body reaction. Nose is located in the middle of face and protruded, reconstruction should be done in harmony with size, shape, color, and textures. We report various methods of nasal reconstruction using local flaps. Methods: From March 1998 to July 2008, 36 patients were operated to reconstruct the nasal defects. Causes of the nasal defects were tumor (18 cases), trauma (11 cases), inflammation from foreign body reaction (5 cases) and congenital malformation (2 cases). The sites of the defects were ala (22 cases), nasal tip (8 cases) and dorsum (6 cases). The thickness of the defects was skin only (5 cases), dermis and cartilagenous layer (7 cases) and full-thickness (24 cases). According to the sites and thickness of the defects, various local flaps were used. Most of alar defects were covered by nasolabial flaps or bilobed flaps and the majority of dorsal and tip defects were covered by paramedian forehead flaps. Small defects below $0.25 cm^2$ were covered with composite graft or full-thickness skin graft. Results: The follow-up period was 14 months. Partial flap necrosis was observed in a case, and one case of infection was reported, it was improved by wound revision and antibiotics. Nasal reconstruction with various local flaps could provide satisfactory results in terms of color and texture match. Conclusion: The important factors of nasal reconstruction are the shape of reconstructed nose, color, and texture. Nasolabial flap is appropriate method for alar or columellar reconstruction and nasolabial island flap is suitable for tip defect. The defect located lateral wall could be reconstructed with bilobed flap for natural color and texture. Skin graft should be considered when the defect could not afford to be covered by adjacent local flap. And entire nasal defect or large defect could be reconstructed by paramedian forehead flap.

• The korean journal of orthodontics
• /
• v.46 no.6
• /
• pp.395-408
• /
• 2016

We report a case involving a young female patient with severe mandibular retrognathism accompanied by mandibular condylar deformity that was effectively treated with Le Fort I osteotomy and two genioplasty procedures. At 9 years and 9 months of age, she was diagnosed with Angle Class III malocclusion, a skeletal Class II jaw relationship, an anterior crossbite, congenital absence of some teeth, and a left-sided cleft lip and palate. Although the anterior crossbite and narrow maxillary arch were corrected by interceptive orthodontic treatment, severe mandibular hypogrowth resulted in unexpectedly severe mandibular retrognathism after growth completion. Moreover, bilateral condylar deformities were observed, and we suspected progressive condylar resorption (PCR). There was a high risk of further condylar resorption with mandibular advancement surgery; therefore, Le Fort I osteotomy with two genioplasty procedures was performed to achieve counterclockwise rotation of the mandible and avoid ingravescence of the condylar deformities. The total duration of active treatment was 42 months. The maxilla was impacted by 7.0 mm and 5.0 mm in the incisor and molar regions, respectively, while the pogonion was advanced by 18.0 mm. This significantly resolved both skeletal disharmony and malocclusion. Furthermore, the hyoid bone was advanced, the pharyngeal airway space was increased, and the morphology of the mandibular condyle was maintained. At the 30-month follow-up examination, the patient exhibited a satisfactory facial profile. The findings from our case suggest that severe mandibular retrognathism with condylar deformities can be effectively treated without surgical mandibular advancement, thus decreasing the risk of PCR.