• Genomics & Informatics
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• v.20 no.3
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• pp.28.1-28.7
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• 2022

We described a clinical, laboratory, and genetic presentation of a pathogenic variant of the CYP1B1 gene through a report of a case of primary congenital glaucoma and a trio analysis of this candidate variant in the family with the Sanger sequencing method and eventually completed our study with the secondary/incidental findings. This study reports a rare case of primary congenital glaucoma, an 8-year-old female child with a negative family history of glaucoma and uncontrolled intraocular pressure. This case's whole-exome sequencing data analysis presents a homozygous pathogenic single nucleotide variant in the CYP1B1 gene (NM_000104:exon3:c.G1103A:p.R368H). At the same time, this pathogenic variant was obtained as a heterozygous state in her unaffected father but not her mother. The diagnosis was made based on molecular findings of whole-exome sequencing data analysis. Therefore, the clinical reports and bioinformatics findings supported the relation between the candidate pathogenic variant and the disease. However, it should not be forgotten that primary congenital glaucoma is not peculiar to the CYP1B1 gene. Since the chance of developing autosomal recessive disorders with low allele frequency and unrelated parents is extraordinary in offspring. However, further data analysis of whole-exome sequencing and Sanger sequencing method were applied to obtain the type of mutation and how it was carried to the offspring.

• Journal of the korean academy of Pediatric Dentistry
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• v.24 no.1
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• pp.179-185
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• 1997

The prevalence of congenital teeth missing is about 2-10% of population and it is more common in permanent dentition than primary dentition. In the patients with congenital missing teeth symptoms such as conical tooth, prolonged retention of primary tooth, tooth attrition. and deficient alveolar bone growth can be accompanied. In this paper the results of clinical observation of the congenital teeth missing brothers and their familial history are presented.

• Journal of Chest Surgery
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• v.19 no.2
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• pp.280-287
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• 1986

Between March 1978 and August 1985, 29 cases at various congenital heart diseases were reoperated because of remnant shunt of residual anomalies at Seoul National University Hospital. They were consisted of 10 cases of Tetralogy, 4 simple VSD, 6 complicated VSD. 3 partial ECD, and 5 other rare congenital anomalies. The interval between the initial and the second procedure ranged from 1 day to 122 months [mean; 26.9 months]. In 4 cases of them, the second procedure was done during initial hospitalization within 3 weeks post-operatively. The primary operation intended to be corrective surgery except four whose primary operation was palliative or exploratory one even though it was done with extracorporeal circulation. The indication for second operation was mainly residual shunt or valvular obstruction due to patch detachment or inadequate relief of stenotic lesion. Others were paravalvular leak, valvuloplasty failure, prosthetic valve failure, and inadequate primary diagnosis. Four patients were dead [14.3%]; three complicated VSD`s and one Tetralogy. There were 7 cases of nonfatal complication with subsequent improvement except one [diffuse cerebral dysfunction].

• Clinical and Experimental Pediatrics
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• v.53 no.1
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• pp.14-20
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• 2010

Cytomegalovirus (CMV) is currently the most common agent of congenital infection and the leading infectious cause of brain damage and hearing loss in children. Symptomatic congenital CMV infections usually result from maternal primary infection during early pregnancy. One half of symptomatic infants have cytomegalic inclusion disease (CID), which is characterized by involvement of multiple organs, in particular, the reticuloendothelial and central nervous system (CNS). Moreover, such involvement may or may not include ocular and auditory damage. Approximately 90% of infants with congenital infection are asymptomatic at birth. Preterm infants with perinatal CMV infection can have symptomatic diseases such as pneumonia, hepatitis, and thrombocytopenia. Microcephaly and abnormal neuroradiologic imaging are associated with a poor prognosis. Hearing loss may occur in both symptomatic and asymptomatic infants with congenital infection and may progress through childhood. Congenital infection is defined by the isolation of CMV from infants within the first 3 weeks of life. Ganciclovir therapy can be considered for infants with symptomatic congenital CMV infection involving the CNS. Pregnant women of seronegative state should be counseled on the importance of good hand washing and other control measures to prevent CMV infection. Heat treatment of infected breast milk at $72{^{\circ}C}$ for 5 seconds can eliminate CMV completely.

• Journal of Yeungnam Medical Science
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• v.35 no.2
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• pp.244-247
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• 2018

Congenital intratympanic membrane cholesteatoma (ITMC) is a rare type of congenital cholesteatoma located within the tympanic membrane. This lesion tends to increase in size over time. The development of ITMC can cause several complications such as hearing impairment, dizziness, facial palsy, and intracranial complications, similar to any other cholesteatoma. The treatment of congenital cholesteatoma requires the removal of the lesion through surgery, because disease progression induces bony destruction of the nearby tissue. Most patients presenting with this cholesteatoma type are also treated with primary surgical removal. However, we recently experienced a case of an ITMC that showed a natural transition to an external auditory canal cholesteatoma.

• Journal of Microbiology and Biotechnology
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• v.27 no.5
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• pp.1005-1009
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• 2017

Primary cytomegalovirus (CMV) infection during pregnancy can cause congenital defects. Available data for CMV infection during pregnancy in north China are inadequate. The aim of this study was to evaluate the epidemiology of maternal CMV infection and explore the incidence of congenital infection. In this prospective study, serum CMV IgG and IgM antibodies were measured in 2,887 pregnant women using ELISA, and the IgG avidity test was performed on all IgM-positive subjects. The seroprevalence of anti-CMV IgG was 94.70%, and of anti-CMV IgM was 1.28%. CMV IgG prevalence increased significantly with age (p < 0.01). Women living in downtown areas showed higher IgG prevalence than those residing in urban areas (p = 0.023). CMV-IgM seroprevalence was highest in autumn (p = 0.021). There was no difference in IgM seroprevalence by age, socioeconomic status, geographical area, or gravida. The rate of primary CMV infection was 0.45% (13/2,887) at the first trimester. The seroconversion rate during pregnancy was 0.76% (22/2,887). One woman underwent seroconversion during pregnancy and gave birth to an infant with asymptomatic CMV infection. Congenital CMV infection was diagnosed in five of the 14 infants from 14 mothers with active infection, for a vertical transmission rate of 35.71% (5/14). Three infants were asymptomatic, whereas two infants presented symptomatic infection with hearing deficits. Although CMV IgG prevalence is relatively high in north China, significant attention to primary CMV infection during pregnancy is still needed.

• 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.

• 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 the korean academy of Pediatric Dentistry
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• v.34 no.3
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• pp.447-453
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• 2007

The purpose of this study was to investigate the relationship between morphology and number of deciduous teeth and the occurrence of other dental anomalies in their successors, and to evaluate the necessity of early diagnosis of dental anomalies in the primary dentition. Prevalence of double teeth and congenital missing teeth was investigated in 254(134 boys, 120 girls) panoramic radiographic films, taken by 2 to 7-year-old children in Chonnam National University Hospital from 2000 to 2005. And then it was examined that relationship of anomalies of the primary dentition and their successors. Among them 11 children(6 boys, 5 girls) had double teeth or missing teeth. And prevalence of the double teeth was 1.6% and missing teeth was 3.1%. One subject had double teeth in in the mandible and missing teeth in the maxilla. Of the 11 cases of dental anomalies in primary dentition, 7 cases had congenital missing tooth in their successors. This study suggests that the dental anomalies in the primary dentition induced high prevalence of the congenital missing of permanent successors in the permanent dentition.

• Journal of Chest Surgery
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• v.28 no.6
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• pp.637-639
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• 1995

Congenital esophageal anomaly with or without tracheoesophageal fistula was rare congenital disease.We experienced 6 cases of congenital esophageal atresia, with tracheoesophageal fistula [5 cases and one esophageal atresia without fistula, were treated in the Department of Thoracic and Cardiovascular Surgery, Kangnam Sacred Heart Hospital, Hallym university, from May, 1992 to July, 1994. The type of four cases were upper blind pouch and lower tracheo or broncho esophageal fistula and one case H-type fistula with no esophageal atresia, and the one case was esophageal atresia without fistula. We performed modified Haight`s method, one case was primary closure with feeding gastrostomy and stomach interposition. Three were died due to respiratory failure on 7 and 9th postoperative days.Three were recovered uneventfully.