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Does antiretroviral therapy cause congenital malformations? A systematic review and meta-analysis

Alemu FM, Yalew AW

OBJECTIVES: This meta-analysis investigated the risk of congenital anomalies among infants of human immunodeficiency virus-infected pregnant women who were exposed to antiretroviral therapy (ART). METHODS: Cohort studies, case-control studies, randomized controlled...
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Terminal Myelocystocele : Pathoembryogenesis and Clinical Features

Lee JY, Kim KH, Wang KC

There has been confusion in the classification of terminal myelocystocele (TMCC) due to its diverse morphology and vague pathoembryogenesis. TMCC could be summarized as having the essential features of an...
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Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea

Jang W, Kim Y, Han E, Park J, Chae H, Kwon A, Choi H, Kim J, Son JO, Lee SJ, Hong BY, Jang DH, Han JY, Lee JH, Kim SY, Lee IG, Sung IK, Moon Y, Kim M, Park JH

BACKGROUND: To validate the clinical application of chromosomal microarray analysis (CMA) as a first-tier clinical diagnostic test and to determine the impact of CMA results on patient clinical management, we...
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Hypomelanosis of Ito with Multiple Congenital Anomalies

Yu DA, Kwon O, Kim KH

Hypomelanosis of Ito (HI) is a neurocutaneous disorder, also known as incontinentia pigmenti achromians. HI has been associated with chromosomal abnormalities, especially mosaicism. Herein, we report a case of HI...
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Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies

Lee SH, Song WJ

Chromosomal microarray (CMA) is a high-resolution, high-throughput method of identifying submicroscopic genomic copy number variations (CNVs). CMA has been established as the first-line diagnostic test for individuals with developmental delay...
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Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract

Lee KH, Gee HY, Shin JI

The definition of congenital anomalies of the kidney and urinary tract (CAKUT) is the disease of structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux (VUR). These anomalies...
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Use of Stem Cell in Fetal Therapy: Current Status and Future Perspectives

Lee SW

During the past decades, there has been a great evolution in the field of fetal therapy for congenital defects. Prenatal screening or diagnostic methods including non-invasive and invasive methods and...
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Association of citalopram with congenital anomalies: A meta-analysis

Kang HH, Ahn KH, Hong SC, Kwon BY, Lee EH, Lee JS, Oh MJ, Kim HJ

OBJECTIVE: The antenatal use of citalopram, a widely prescribed selective serotonin reuptake inhibitor, has been suspected to be associated with congenital, particularly cardiac, anomalies. This study aimed to prove the...
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A Case of Trisomy 9 Mosaicism Syndrome

Na YJ, Lee JH, Park MS

Trisomy 9 mosaicism syndrome was first reported by Haslam in 1973 and has been rarely reported. The severity of malformations depends on the percentage of trisomic cells. This syndrome can...
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Differentiating between Traumatic Pathology and Congenital Variant: A Case Report of Butterfly Vertebra

Karargyris O, Lampropoulou-Adamidou K, Morassi LG, Stathopoulos IP, Chatziioannou SN, Pneumaticos SG

Butterfly vertebra is a rare congenital malformation of the spine, which is usually reported in the literature as an isolated finding. We describe a 40-year-old woman that presented to our...
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Two Consecutive Levels of Unilateral Cervical Spondylolysis on Opposite Sides

Ryu KH, Kim SJ, Kim OH, Kim SH, Lee KH, Baek HJ, Lee Y, Cha YK

Cervical spondylolysis, with or without spondylolisthesis, is a rare condition defined as a corticated cleft between the superior and inferior articular facets of the articular pillar. The defect occurs predominantly...
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Tracheal Agenesis Reconstruction with External Esophageal Stenting: Postoperative Results and Complications

Park BJ, Kim MS, Yang JH, Jun TG

Tracheal agenesis is an extremely rare and typically lethal congenital disorder. Approximately 150 cases have been described since 1900, and very few cases of survival have been reported. We describe...
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Changing Patterns of Congenital Anomalies over Ten Years in a Single Neonatal Intensive Care Unit

Chung SH, Kim HY, Kim JH, Choi YS, Lee BS, Kim KS, Kim EA

PURPOSE: To investigate incidence, changing patterns, and mortality associated with congenital anomalies experienced in a single neonatal intensive care unit (NICU). METHODS: Retrospective chart review of 29,026 neonates admitted to NICU...
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Multidetector-Row CT Findings of a Preduodenal Portal Vein Associated with Polysplenic Syndrome in an Adult: A Case Report

Song H, Lee SL, Ku YM, Chun CW

Preduodenal portal vein (PDPV) is a rare developmental anomaly in which the portal vein runs at the ventral side of the duodenum instead of at an intrapancreatic location. Understanding of...
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Persistent Pulmonary Hypertension of the Newborn in a Preterm Infant Exposed to Methotrexate During the Early Gestational Period

Suh YE, Lee BS, Kim JJ, Won HS, Lim G, Choi YS, Kim EA, Kim KS

  • KMID: 2280896
  • Korean J Perinatol.
  • 2012 Dec;23(4):292-297.
Methotrexate (MTX) is used in the reproductive aged females for the management of medical conditions such as ectopic pregnancy, autoimmune diseases and malignancies. Because of its antimetabolite effect, exposure to...
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Multi-Detector CT Findings of Double Retroaortic Left Renal Veins

Park KE, Ku YM, Lee SL

The awareness of renal vascular anomalies is important in order to avoid diagnostic pitfalls and to plan for preoperative surgery and interventional radiology. Retroaortic left renal vein is an uncommon...
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Congenital Cleft of Anterior Arch and Partial Aplasia of the Posterior Arch of the C1

Choi JW, Jeong JH, Moon SM, Hwang HS

  • KMID: 2339926
  • J Korean Neurosurg Soc.
  • 2011 Mar;49(3):178-181.
Congenital anomalies in arches of the atlas are rare, and are usually discovered incidentally. However, a very rare subgroup of patients with unique radiographic features is predisposed to transient quadriparesis...
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Colon Interposition in Children after Failed Tracheoesophageal Fistula Repair

Park S, Kang CH, Kim HS, Park IK, Kim YT, Kim JH

The most common surgical procedure used to manage tracheoesophageal fistula is the primary anastomosis of the esophagus. However, in the case of failed anastomosis, replacing the esophagus with another organ...
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A Case of Partial Trisomy 9 due to Maternal Balanced Translocation t(9;21)(q21.2;q11.2)

Shin IS, Jung WJ, Jin JY, Lee WR

  • KMID: 1845273
  • Korean J Perinatol.
  • 2010 Sep;21(3):302-305.
Trisomy 9 syndrome was first reported by Retheore in 1970 and has been rarely reported. This syndrome consists of partial and complete trisomy 9. It is characterized by growth and...
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Genetics of kidney development: pathogenesis of renal anomalies

Hahn H

Congenital anomalies of the kidney and urinary tract (CAKUT) account for more than 50% of abdominal masses found in neonates and involve about 0.5% of all pregnancies. CAKUT has a...
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