• Investigative Magnetic Resonance Imaging
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• v.25 no.3
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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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• v.44 no.6
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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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• v.21 no.4
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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'.

• Journal of the korean academy of Pediatric Dentistry
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• v.45 no.4
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• pp.514-520
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• 2018

Congenital absence of the primary canines is very rare. Congenital absence of primary teeth often causes their successors to not develop at all or affects the eruption of their successors. The purpose of this paper was to report the cases of 2 children with early eruption of the maxillary permanent canines at ages 4 and 6 years, respectively, following congenital absence of their maxillary primary canines, which are not common in earlier studies. Although tooth eruption and shedding exhibit some physiological variation, certain clinical cases are extreme. Premature eruption of the maxillary permanent canines may cause complications in terms of the space available for the eruption of adjacent teeth. Additionally, early eruption of permanent teeth increases the need for more careful oral hygiene. Therefore, the pediatric dentist must be alert to such rare cases.

• The Journal of Advanced Prosthodontics
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• v.8 no.3
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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.

• Journal of the Korean Arthroscopy Society
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• v.1 no.1
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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 Veterinary Clinics
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• v.20 no.3
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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.

• Journal of the korean academy of Pediatric Dentistry
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• v.30 no.2
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• pp.210-216
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• 2003

The double teeth include gemination and fusion. The congenital missing tooth is the absence of the tooth. The purpose of this study was to investigate the prevalence of double teeth and congenital missing teeth in preschool children of Iksan city. The study population consisted of 1,031 children, 569 boys and 462 girls, aged from 17 to 84 months. The double teeth possess a variety of diagnostic and treatment problems. Gemination is the partial splitting of a single bud into two distinct entities that remain joined in a Siamese twin fashion. Fusion is the joining of two buds. Both may be normal, or one may be a supernumerary tooth. Congenital missing is the absence of one or a few teeth. Twenty three(11 boys and 12 girls) of the 1,031 children had double teeth and 17(8 boys and 9 girls) exhibited congenital missing of teeth. The prevalence of double primary teeth was 2.2%. The prevalence of congenital missing teeth was 1.6%. One subject had double teeth and congenital missing tooth at the same time. Of the 17 cases of congenital missing teeth, one girl showed it in the maxilla and aye boys and six girls had them in the unilateral side of the mandible. There were no significant differences in the prevalence of double teeth and congenital missing teeth between the boys and the girls.

• Journal of Chest Surgery
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• v.15 no.1
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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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• v.5 no.2
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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.