• Investigative Magnetic Resonance Imaging
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• 제25권3호
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• pp.193-196
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• 2021

Congenital absence of the bilateral internal carotid arteries (ICA) is a very rare occurrence. Recognition of this rare anomaly is important, when considering intracranial endovascular interventions in the event of thromboembolic events with revascularization, transsphenoidal surgery, and the surveillance and detection of associated cerebral aneurysms. We report a case of a 25-year-old man who presented with headache since 2 years ago, and was incidentally discovered to have a congenital bilateral absence of ICAs.

• Journal of Korean Neurosurgical Society
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• 제44권6호
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• pp.389-391
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• 2008

Congenital absence of a cervical spine pedicle is a rare clinical entity, and it is usually found incidentally on radiological studies performed after trauma in patients with cervical pain. We report two cases of congenital absence of a cervical spine pedicle and present a review of the literature.

• Clinics in Shoulder and Elbow
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• 제21권4호
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• pp.240-245
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• 2018

Rare cases of a congenital absence of the long head of the biceps tendon (LHBT) have been reported, and its incidence is unknown. In a literature review of the congenital absence of the LHBT, only 1 case was associated with posterior shoulder instability and severe posterior glenoid dysplasia. This paper reports the first case of a patient with a bilateral congenital absence of the LHBT with posterior shoulder instability without glenoid dysplasia or posterior glenoid tilt. The patient experienced a traffic accident while holding the gear stick with his right hand. After the accident, a posteroinferior labral tear with paralabral cysts was detected on the magnetic resonance images. The congenital absence of the LHBT was assumed to have affected the posterior instability that possibly increased the susceptibility to a subsequent traumatic posterior inferior labral tear. This case was identified as a posterior inferior tear caused by a traumatic 'gear stick injury'.

• 대한소아치과학회지
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• 제45권4호
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• pp.514-520
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• 2018

유치의 선천적 결손은 흔하지 않으며, 특히 유견치의 선천적 결손은 드물다. 일반적으로 선천적 결손에 따른 후속 영구치에 미치는 영향으로 후속 영구치 또한 선천적 결손 되거나, 발육 시기에 영향을 주는 경우가 보고되어졌다. 본 증례는 상악 유견치의 선천적 결손을 지닌 2명의 환아에게서 각각 4세, 6세경 영구 견치가 조기 맹출 된 증례가 있어 보고하였다. 이러한 조기 맹출이 일반적이지 않더라도, 발생 시에 환자는 공간과 관련된 문제가 발생할 수 있으며 좀 더 주의 깊은 구강위생 관리가 필요하다. 이에 본 증례를 통하여 유견치 선천적 결손 후 후속 영구치의 조기 맹출 가능성에 대하여 보고하는 바이며, 조기맹출 시 발생할 수 있는 문제점과 관련하여 임상가들은 주의 깊은 관찰이 필요하다.

• The Journal of Advanced Prosthodontics
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• 제8권3호
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• pp.241-250
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• 2016

Oligodontia is defined as a congenital tooth agenesis with the absence of six or more permanent teeth. This clinical report describes a patient with non-syndromic partial oligodontia, with retained deciduous teeth and the absence of 16 permanent teeth. Anterior esthetic problems were caused by interarch tooth size discrepancy, interdental space, aberrant tooth dimensions, and the absence of centric contacts of the anterior teeth. Prosthetic restoration after orthodontic and implant treatment was performed with a multi-disciplinary team approach. Favorable functional and esthetic results were obtained using a definitive prosthesis.

• 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.

• 한국임상수의학회지
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• 제20권3호
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• pp.427-430
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• 2003

Akabane virus is a cause of severe congenital defects, but adult animals show no signs of infection. In this study, congenital abnormalitis associated with Akabane virus infection in Korean native goat. The prevalence of serum neutralizing antibodies to Akabane virus in goat population was investigated, indicating that approximately 30% of goats in Korea were seropositive(36/120). The mother goats have the highest titers of neutralizing antibodies, as 1:128. And also there showed seropositive of Akabane virus in newborn fetus fluids. The necropsy results of newborn fetus visceral organs were appeared normal. These findings provide that Akabane virus is the ethiological agent of congenital abnormalitis and stillbirth. Our results suggest that goat in natural situations are part of the Akabane virus transmission cycle.

• 대한소아치과학회지
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• 제30권2호
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• pp.210-216
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• 2003

이중치는 쌍생치와 융합을 포함한다. 선천적인 결손치는 치아가 하나이상 없는 상태를 의미한다. 이 연구의 목적은 익산시 유치원 어린이에서의 이중치와 선천적 결손치의 유병율을 조사하는 것이다. 조사 인원은 569명의 남아와 462명의 여아로 1,031명의 어린이를 대상으로 하였으며 연령은 17개월에서 84개월의 연령이내였다. 이중치는 다양한 진단학적 치료적 문제를 가진다. 쌍생치는 하나의 치배가 두개의 치관을 형성하는 것으로 정의되며 임상적으로 동일한 두 개의 치관이 나뉘어져 거울상(mirror image)으로 보이게 된다. 융합치는 두 개의 치배가 합쳐져서 형성된 것으로 물리적인 힘이나 압력이 두 개의 정상적으로 분리된 치배를 접촉시켜 발생하는 것으로 알려져 있다. 융합은 두개의 정상치아 사이에서 나타나거나 혹은 정상치아와 과잉치 사이에서 나타나는데 후자의 경우 쌍생치와 구별하기 힘들다. 1,031명중 23명(11명의 남아, 12명의 여아)이 이중치를 보이고 17명(8명 남아, 9명 여아)은 선천적 결손치를 보였다. 이중치의 유병율은 2.2%였다. 선천적 결손치의 유병율은 1.6%였다. 피검자중 1명은 이중치와 결손치를 가지고 있었다. 유치열기의 이중치와 선천적 결손치에서 모두 남녀간에 통계학적으로 유의한 차이가 없었다(p>0.05).

• Journal of Chest Surgery
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• 제15권1호
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• pp.129-135
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• 1982

Congenital pericardial defect is a rare anomaly, which was first described by M. Columbus in 1559. Four hundred years later the first clinical diagnosis was reported by Ellis et al. The congenital pericardial defect Is usually asymptomatic and Is found Incidentally at thoracotomy and autopsy, but it appears that partial absence of pericardium Is not Innocuous because of sudden death due to herniation of a portion of heart. We experienced congenital left pericardial defect in 20 year old female who was diagnosed as left ventricular aneurysm before operation. This patient complained of dyspnea on exertion and anterior chest discomfortness. Physical examination revealed Grade II pansystolic murmur on the 3rd and 4th intercostal space left sternal border. There were specific abnormal findings on the chest plain film, EKG, ultrasonography, and left ventriculography. On 9th July 1981, an operation was performed and found the left partial pericardial defect through which a large portion of left ventricle was herniated Into left pleural space. The method of operation was removal of adhesion and widening of the pericardial defect to avoid Incarceration. After operation, we observed marked Improvement of symptoms and disappearance of cardiac murmur.

• 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.