• 대한관절경학회지
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• 제1권1호
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• pp.108-111
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• 1997

Congenital deficiency of the anterior cruciate ligament (ACL) is a rare disorder that has been reported in association with other knee dysplasia like as congenital knee dislocation. congenital short femur, congenital absence of menisci, congenital ring meniscus, and thrombocytopenia-absent radius syndrome. There has been no published explanation about the etiology of bilaeral ACL deficiencies without other abnomality. The patient of congenital ACL deficiency must be carefully inspected about combined anomaly. Those efforts may be helful in treatment or ACL deficient patients and evaluation of pathophysiology or ACL deficiency. However there has not been a ruptured congenital deficiency of the ACL without other dysplasia or the knee and other congenital skeletal abnomalities. We reported a case of symptomatic bilateral congenital deficiencies of the ACL which have not been associated with other skeletal abnormalities.

• Journal of Korean Neurosurgical Society
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• 제48권3호
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• pp.294-297
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• 2010

Abnormalities of the posterior arch, including congenitally absent cervical pedicle and cervical spondylolysis, are rare entities that are usually found incidentally on neck radiographs. It is important to recognize these characteristic radiological features because their radiographic appearance may cause them to be confused with more serious entities such as fractures, locked facets, and tumor-induced bony erosions. Also, it is important to distinguish these abnormalities from similar pathologies to prevent the use of inappropriate treatment We report the relevant clinical and radiological findings seen in three cases of posterior arch defect after trauma with review of pertinent literature.

• Clinical and Experimental Pediatrics
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• 제50권3호
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• pp.311-315
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• 2007

선천성 고위 견갑골과 두개안면기형, 심기형, 척추기형이 동반된 신생아에서 3번과 17번 염색체의 균형전좌를 확인하였으며 이는 국내 첫 번째 사례로 문헌 고찰과 함께 보고하는 바이다.

• Journal of Dental Anesthesia and Pain Medicine
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• 제17권3호
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• pp.215-217
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• 2017

Branchio-oto-renal syndrome (BOR) is a rare autosomal dominant disorder. The features include branchial cysts, hearing loss, ear malformation, preauricular pits, retrognathia, congenital heart disease, and renal abnormalities. However, anesthetic management of these patients has seldom been reported. We report a case in which general anesthesia was performed for dental treatment in a patient with BOR. Airway management, renal function, and hemodynamic changes can be of critical concern during anesthetic management. A 13-year-old girl diagnosed with BOR had severe right hearing loss, right external ear malformation, renal abnormalities, and postoperative patent ductus arteriosus (PDA). Dental extraction under general anesthesia was scheduled for a supernumerary tooth. The procedure was completed with sufficient urine volume, adequate airway management, and stable hemodynamics.

• 대한영상의학회지
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• 제81권6호
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• pp.1511-1516
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• 2020

허리근뒤 이상 온엉덩동맥은 엉덩허리 혈관 이상 중에서도 굉장히 희귀한 선천적 이상이다. 51세 여성이 응급실에 점점 심해지는 오른쪽 하지 통증과 쇠약으로 내원하였다. 하지 CT 혈관조영술에서 하지 동맥들에 협착 소견 없었으며 이 검사 중에 오른쪽 허리근뒤 온엉덩동맥을 우연히 발견하였다. 우리는 희귀한 허리근뒤 이상 온엉덩동맥 증례를 보고하자고 한다. 외과의사와 임상의는 이 선천적 이상을 알고 있어야 골반 쪽이나 기타 정형외과적 수술 시 발생할 수 있는 심각한 합병증을 예방할 수 있다.

• Journal of Yeungnam Medical Science
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• 제31권2호
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• pp.109-112
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• 2014

A pulmonary artery sling is a very rare congenital abnormality in which the left pulmonary artery rises from the posterior surface of the right pulmonary artery and then passes between the trachea and the esophagus, causing tracheal compression. It is associated with tracheo-bronchial abnormalities (50%) and cardiovascular abnormalities (30%). It may produce respiratory symptoms through the airway compression of the abnormal left pulmonary artery and congenital abnormalities associated with it. Because most (90%) pulmonary artery sling patients present symptoms during infancy, their condition is often diagnosed in the first year of life. However, a pulmonary artery sling is occasionally found in adults. It is usually asymptomatic and found incidentally. This is a very rare case of an asymptomatic pulmonary artery sling in an adult. A 38-year-old man presented symptoms of mild exertional dyspnea. His spiral computed tomography showed a pulmonary artery sling. He was discharged without specific treatment because his symptoms improved without specific treatment and might not have been associated with a pulmonary artery sling. We report an adult case of an asymptomatic pulmonary artery sling diagnosed via spiral computed tomography, accompanied by a literature review.

• Journal of Korean Neurosurgical Society
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• 제64권3호
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• pp.380-385
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• 2021

Caudal agenesis refers to the congenital malformation with the essential feature of the agenesis of the sacrococcygeal bone. It is associated with various types of spinal cord anomaly as well as with complex anomalies of genitourinary or gastrointestinal system. The wide spectrum of the disease can be attributed to its pathoembryological origin, the secondary neurulation. This review presents the definition, etiology, classification, and clinical features of the disease.

• Journal of Interdisciplinary Genomics
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• 제5권2호
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• pp.24-28
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• 2023

Chromosomal microarray (CMA) is primarily recommended for detecting clinically significant copy number variants (CNVs) in the genetic diagnosis of developmental delay, intellectual disability, autism, and congenital malformations. Prenatal CMA is recommended when a fetus has major congenital malformations. The main principles of CMA can be divided into array comparative genomic hybridization and single-nucleotide polymorphism arrays. In the current CMA platforms, these two principles are combined, and detection of genetic abnormalities including CNVs and absence of heterozygosity is facilitated. In this review, I described practical assessment of CMA testing regarding to laboratory management of CMA, interpretation of CNVs, and special considerations for comprehensive genetic counseling.

• 대한유전성대사질환학회지
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• 제22권2호
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• pp.53-57
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• 2022

다양한 아미노산 및 지질 대사 질환에서 피부와 모발의 변화가 관찰된다. 탈모증이 관찰되는 경우 장병성 선단피부염(아연 대사 장애), 비오티니다아제 결핍증 (비타민 B), 다발성 카르복실라제 결핍증, acrodermatitis acidemica 등 아미노산 및 비타민 대사 결함을 의심해볼 수 있다. 또한 부서지기 쉬운 모발이 관찰되는 경우 아르기니노숙신산뇨증 또는 시트룰린혈증 및 점액다당증을 의심해볼 수 있다. 건조하고 두꺼워진 인설을 가진 피부 또는 비늘증은 중성지질 축적 질환, 지방산 대사 장애, 콜레스테롤 합성 및 대사 장애와 관련하여 나타날 수 있다. 수포성 병변은 장병성 선단피부염, 비오티니다아제 결핍증, 홀로카르복실라제 합성효소 결핍증, acrodermatitis acidemica 등에서 나타날 수 있다.

• Neonatal Medicine
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• 제28권3호
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• pp.99-107
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• 2021

Purpose: Studies have been conducted on the prevalence and infant mortality rate of congenital anomalies; however, studies on child mortality are rare. Therefore, we evaluated the characteristics of deaths associated with congenital anomalies among children born in Korea who died within 5 years of age. Methods: Birth-to-death cohort linked data of children under the age of 5 years from 2010 to 2013, and statistical data on the cause of death by age from 1999 to 2019, both provided by the Korea National Statistical Office's Microdata Integrated Service, were retrospectively investigated. We investigated the trends and characteristics of mortality associated with congenital anomalies. Results: Among 1,858,945 children, 6,510 children who died were under 5 years of age, and among them, 1,229 deaths were associated with congenital anomalies, while 5,281 deaths were due to other causes. Deaths associated with congenital anomalies accounted for 18.9% of all deaths. When comparing congenital anomalies by systems, anomalies of the cardiovascular system (52.6%) were the most common. The mortality rate associated with congenital anomalies and those of other causes showed similar declining trends in 21 years. Conclusion: The mortality rate of congenital anomalies during the first 5 years of life did not increase differently from the prevalence of congenital anomalies but rather decreased. Deaths associated with congenital anomalies accounted for 20.5% of all infant deaths and 12.1% of child deaths, since the major causes of death in infants and children are slightly different, continuous and careful monitoring is required.