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A Case of Tonsillectomy and Adenoidectomy in Child With Down Syndrome With Obstructive Sleep Apnea

Yun CB, Hyun KJ, Kim H, Kim YH

Children with obstructive sleep apnea (OSA) show symptoms such as snoring, sleep apnea, and oral breathing. The diagnosis of the disease can be made through polysomnography and as the most...
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A Case of Elastosis Perforans Serpiginosa in a Patient with Down Syndrome

Kook, HD, Hong N, Lee DH, Jung HJ, Ahn J, Park MY

  • KMID: 2532299
  • Korean J Dermatol.
  • 2022 Jul;60(6):387-389.
Elastosis perforans serpiginosa (EPS) is a rare condition that belongs to the group of acquired perforating dermatosis. It usually appears as keratotic papules in serpiginous configuration with central atrophy on...
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Epidemiology of Acute Leukemia among Children with Down Syndrome in Korea

Choi YB, Yoo KH

Purpose Children with Down syndrome (DS) show a higher risk of acute leukemia than those without DS. In this study, we investigated the nationwide incidence of acute leukemia among children with...
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Endocrinal dysfunction in children with Down syndrome

Metwalley KA, Farghaly HS

Down syndrome (DS) is the most common genetic disorder in live-born infants. Children with DS are at increased risk of numerous endocrinal comorbidities. The information contained in this article will...
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Gross motor dysfunction and balance impairments in children and adolescents with Down syndrome: a systematic review

Jain PD, Nayak A, Karnad SD, Doctor KN

Background: Individuals with Down syndrome present with several impairments such as hypotonia, ligament laxity, decreased muscle strength, insufficient muscular cocontraction, inadequate postural control, and disturbed proprioception. These factors are responsible...
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Complications of Posterior Fusion for Atlantoaxial Instability in Children With Down Syndrome

Takeoka Y, Kakutani K, Miyamoto H, Suzuki T, Yurube T, Komoto I, Ryu M, Satsuma S, Uno K

Objective: To clarify the complications of posterior fusion for atlantoaxial instability (AAI) in children with Down syndrome and to discuss the significance of surgical intervention. Methods: Twenty pediatric patients with Down...
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Hip Arthrodesis to Treat Severe Hip Osteoarthritis in an Adolescent with Down Syndrome

Jung YH, Shin KY, Lee JY

Down syndrome is the most common chromosomal disorder and is accompanied by hip osteoarthritis in approximately 28% of patients. This paper reports a case of hip arthrodesis as a treatment for...
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Diffuse cerebral microbleeds in a young adult with Down syndrome

Sohn EH, Lee AY

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Down Syndrome, Obstetricians Should Know

Sung JH, Kim SH, Hong Sy, Chang CS, Kim Y, Jeon J, Park H, Oh Sy

Down syndrome is the most common trisomy abnormality, and generally occurs in about 1 in 700 surviving children. According to a Korean study, the prevalence of Down syndrome was about...
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Clinical Practice Guidelines for Prenatal Aneuploidy Screening and Diagnostic Testing from Korean Society of Maternal-Fetal Medicine:(1) Prenatal Aneuploidy Screening

Choe SA, Seol HJ, Kwon JY, Park CW, Kim M, Lee JY, Kim MA, Hwang HS, Na S, Shim JY, Kim K, Ryu HM

In 2019, the Korean Society of Maternal-Fetal Medicine developed the first Korean clinical practice guidelines for prenatal aneuploidy screening and diagnostic testing. These guidelines were developed by adapting established clinical...
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Screening for down syndrome using trophoblast retrieval and isolation of the cervix: preliminary study

Lee MJ, Kim SH, Park HJ, Shim SH, Jang HY, Cha DH

Purpose: Trisomy 21, the cause of Down syndrome (DS) with various medical problems, is the most common aneuploidy during the fetal period. For diagnosis, a non-invasive screening test using maternal...
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Risk of Down syndrome in duodenal atresia and atrioventricular septal defect: Is there an ethnic difference?

Lee SM, Jun JK, Kim HY, Shin SH, Park JW, Kim MK, Park CW, Park JS

Purpose: Duodenal atresia (DA) and atrioventricular septal defect (AVSD) are well known ultrasonographic findings associated with Down syndrome. The risk of Down syndrome in fetuses with these anomalies has been...
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Reversibility of Pulmonary Hypertension Following Surgical Atrial Septal Defect Closure in Children with Down Syndrome

Lee JS, Cha SG, Kim GB, Lee SY, Song MK, Kwon HW, Bae EJ, Kwak JG, Kim WH, Lee JR

BACKGROUND: Many Down syndrome (DS) patients have an atrial septal defect (ASD) and associated pulmonary hypertension (PH) from early childhood. ASD closure in DS patients with PH is often controversial...
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Estimating Nationwide Prevalence of Live Births with Down Syndrome and Their Medical Expenditures in Korea

Park GW, Kim NE, Choi EK, Yang HJ, Won S, Lee YJ

BACKGROUND: This study aimed to estimate the nationwide prevalence of live births with Down syndrome (DS) and its trends and compare the observed and model-based predicted prevalence rates. Further, we...
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Implant hybrid prosthetic treatment in Down syndrome patient: a case report

Kim MG, Kim JH, Lee HR, Jang ES, Kim HJ, Lee GJ

Down syndrome patients generally have poor oral hygiene due to lack of awareness and ability to perform oral care, and there is a high risk of tooth loss. Also, they...
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A Concomitant Hemato-Oncologic Disorder of Patient with Down Syndrome

Park KB, Lee DH

A patient with Down syndrome has hematologic and oncologic disorders of medical complication. Down syndrome shows that characteristic hematologic and oncologic abnormalities and developments of disorders are different at ages....
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Down syndrome with asymptomatic neuroglial cyst: A case report and review of the literature

Yang SD, Lee SJ, Lee DH, Hong YH

Down syndrome (DS, trisomy 21) is associated with neuroanatomical abnormalities, including choroid plexus cysts and various types of brain tumors. Trisomy 21 is associated with oncogenic factor, especially in brain...
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Differences in Clinical Characteristics of Transient Myeloproliferative Disease and Leukemia in Down Syndrome: A Single University Hospital Study

Hwang I, Yang S, Cheon E, Hwang G, Jung HJ, Lee JH, Park MS, Park JE

BACKGROUND: Children with Down syndrome (DS) have a 10- to 20-fold increased risk of developing leukemia. However, in some patients, leukemia does not become apparent despite significant number of blast...
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Motor and Cognitive Developmental Profiles in Children With Down Syndrome

Kim HI, Kim SW, Kim J, Jeon HR, Jung DW

OBJECTIVE: To investigate motor and cognitive developmental profiles and to evaluate the correlation between two developmental areas and assess the influencing factors of the developmental process in children with Down...
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Does wastewater discharge have relations with increase of Turner syndrome and Down syndrome?

Choi I

The purpose of this study is to examine whether water and air pollutants have a relationship with an increase in the genetic disorders Turner syndrome and Down syndrome, which are...
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