• 대한소아치과학회지
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• 제38권1호
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• pp.56-61
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• 2011

Cornelia de Lange 증후군(Cornelia de Lange Syndrome)은 성장지연, 정신지체, 골격과 외모의 이상을 특징으로 하는 선천성 희귀병이다. 대표적 합병증으로는 위-식도 역류증이 있는데, 이로 인한 구토증은 기도를 폐쇄하여 질식의 우려가 있으므로 전신마취 시 특별한 주의가 요구된다. 10세 4개월 Cornelia de Lange 증후군 환아가 치아우식증을 주소로 서울대학교 치과병원 소아치과에 내원하였다. 임상적으로 하악 왜소증, 치열 총생, 왜소치, 치아우식증, 치아부식증, 구개수열의 소견을 보였으며, 중증의 정신지체 및 청각장애로 인해 환자 협조도가 부족하여 외래 전신마취 하에 치과치료를 시행하였기에 보고하는 바이다.

• Journal of Dental Anesthesia and Pain Medicine
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• 제22권2호
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• pp.155-159
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• 2022

Cohen syndrome is a rare genetic disorder associated with mutations in the VPS13B gene. Individuals with this disorder present with diverse clinical manifestations, including muscle hypotonia, intellectual disabilities, and typical facial characteristics, such as prominent upper central incisors and micrognathia. General anesthesia was administered to a 23-year-old man with Cohen syndrome. Although we observed prominent upper central incisors, an overjet of 10 mm, micrognathia, and thyromental distance of 4 cm, hypotonia was not observed in the patient. Intubation was rendered difficult when performing a direct laryngoscopy. However, smooth intubation was achieved using a video laryngoscope. The patient's train of four (TOF) count remained zero close to 60 min after rocuronium administration, suggesting that the drug's muscle-relaxant effect may have been prolonged. A TOF ratio of 0.79 was confirmed 130 min after rocuronium administration, and a TOF ratio of 1.0 was confirmed after administration of 150 mg of sugammadex. The patient's respiration remained stable after extubation, and no recurarization of muscle relaxation was observed. As demonstrated in this case report, it is important to closely monitor recovery from muscle relaxation and prepare multiple techniques for airway management in general anesthesia management of patients with Cohen syndrome.

• 대한장애인치과학회지
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• 제10권2호
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• pp.101-105
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• 2014

Moebius syndrome is a rare, congenital neurological disease involving facial paralysis and limitation of eye movements. It results from maldevelopment of the sixth and seventh cranial nerves. Dental features of this syndrome include micrognathia, microstomia, tongue deformity, cleft palate, hypoplasia of the teeth, and congenital missing teeth. A 7-year-old female with Moebius syndrome was referred from a local dental clinic for caries treatment. She presented with facial paralysis and microstomia. Oral findings included multiple caries with enamel hypoplasia, congenital missing teeth, and tongue deformity. Dental treatments including restorative and preventive procedures were performed. Oral findings and management aspects of Moebius syndrome for this case are discussed. Early evaluation and multidisciplinary care are needed for children with Moebius syndrome.

• Clinical and Experimental Pediatrics
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• 제46권3호
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• pp.291-294
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• 2003

21번 환 염색체는 심한 기형에서부터 정상에 이르기까지 다양한 표현형을 보인다. 저자들은 발달 지연과 다발성 선천성 기형을 가진 환자에서 말초혈액 염색체 검사상 21번 염색체 장완의 결실이 동반된 21번 환 염색체를 경험하였기에 이에 문헌 고찰과 함께 보고하는 바이다.

• The Journal of Advanced Prosthodontics
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• 제7권5호
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• pp.406-410
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• 2015

Russell-Silver syndrome (RSS) is a congenital disease characterized by short stature due to growth hormone deficiency, physical asymmetry, inverted triangular face, micrognathia, prominent forehead, and hypodontia. This case report presents a prosthetic management of a 6-year-old patient with Russell-Silver syndrome treated with overdentures on the maxilla and the mandible using the remaining primary teeth. Subsequent and comprehensive dental management considering the growth and development of a young patient will be necessary.

• Journal of Genetic Medicine
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• 제10권2호
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• pp.109-112
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• 2013

Treacher Collins syndrome (TCS) is the most common and well known mandibulofacial dysostosis with characteristic clinical features including downward slanting of palpebral fissures, coloboma of the lower eyelid, hypoplastic zygomatic arches, micrognathia, macrostomia, microtia, and other deformities of the ears. TCS is caused by mutations in at least 3 genes involved in pre-rRNA transcription: TCOF1, POLR1D and POLR1C. We experienced a 1-day-old female infant with characteristic clinical features of TCS. A novel, heterozygotic mutation within the TCOF1 gene (c.3874_3875insG, p.Ala1292Glyfs*30) was identified to cause a premature stop codon.

• 대한치과의사협회지
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• 제15권8호
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• pp.607-610
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• 1977

When micrognathia (Small jaw) and glossoptosis (Falling backward of the tongue) occur in the newborn, there is a grave danger of upper airway obstruction. These deformities are frequently associated with an incomplete cleft of the palate, and the entity has been referred to as the Pierre Robin Syndrome. This is to report a case of Pierre Robin Syndrome of 40 day old Korean male infant, whose birth weight was about 3.6kg, and gestation period was 39 weeks. From birth, dyspnea and feeding difficulty were developed. The authors treated the patient by surgical procedure (glossopexy). The post operative course was uneventful.

• Journal of Genetic Medicine
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• 제18권1호
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• pp.60-63
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• 2021

Gabriel-de Vries syndrome, caused by the mutation of YY1, is a newly defined genetic syndrome characterized by developmental delay, facial dysmorphism, and intrauterine growth retardation. A 7-month-old girl presented developmental delay and subtle facial dysmorphism including facial asymmetry, micrognathia, and low-set ears. Whole exome sequencing identified a de novo heterozygous missense variant in the YY1 (c.1220A>G; p.His407Arg) gene. Here, we examined the clinical and genetic characteristics of an infant with a novel likely pathogenic variant of YY1. This case expands the phenotypic spectrum of Gabriel-de Vries syndrome.

• Journal of Genetic Medicine
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• 제9권2호
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• pp.89-92
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• 2012

Campomelic dysplasia (CMD) is a rare, often lethal, genetic disorder characterized by multiple congenital anomalies and abnormal development of the reproductive organs in males. Mutations in the SOX9 gene are known to cause CMD. We present a Korean CMD girl with a normal 46,XX karyotype and a female reproductive organ phenotype. She was born at 2.35 kg at 38 weeks of gestation and showed characteristic phenotypes, including cleft palate, micrognathia, hypertelorism, flat nasal bridge, congenital bowing of limbs, hypoplastic scapulae, deformed pelvis, and 11 pairs of ribs. She also had an atrioseptal defect of the heart and marked laryngotracheomalacia requiring tracheostomy and tracheopexy. SOX9 mutation analysis revealed the presence of a novel nonsense mutation, $p.Gln369^*$, and the patient was genetically confirmed to have CMD. Although she showed marked failure to thrive and neurodevelopmental delay, she is now 40 months of age and is the only surviving patient with CMD in Korea.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제21권3호
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• pp.317-323
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• 1999

TMJ ankylosis is defined as a mobile disorder of jaw such as mouth opening limitation, limitation of anterior or/and lateral movement of TMJ. Kazanjian published first clinical report about classification of TMJ ankylosis dividing with intracapsular ankylosis and extracapsular ankylosis. TMJ ankylosis is resulted from trauma, infection, metastatic tumor, irradiation, burn and etc. When TMJ ankylosis is manifested in growing period, it affects to functional disorder and development and position of mandible, so it can result in maxillofacial deformity such as facial asymmetry, micrognathia, malocclusion. For treatment of TMJ ankylosis, various surgical interventions were devised ; condylectomy, gap arthroplasty, interpositional arthroplasty and TMJ reconstruction. So, we report our results with documental study and cases of true ankylosis in our department.