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C1 Stenosis: an Easily Missed Cause for Cervical Myelopathy

Joaquim AF, Baum G, Tan LA, Riew KD

C1 stenosis is often an easily missed cause for cervical myelopathy. The vast majority of cervical myelopathy occurs in the subaxial cervical spine. The cervical canal is generally largest at...
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Arterial stiffness in young women with Turner syndrome using cardio-ankle vascular index

Heo YJ, Jung HW, Lee YA, Shin CH, Yang SW

PURPOSE: Patients with Turner syndrome (TS) have increased risk of morbidities and mortality related to cardiovascular complications. Cardio-ankle vascular index (CAVI) is a novel method of evaluating arterial stiffness independent...
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Clinicopathological features of premature ovarian insufficiency associated with chromosome abnormalities

Jo HC, Park JK, Baek JC, Park JE, Kang MY, Cho IA

PURPOSE: The aim of this study was to investigate the clinicopathological features of premature ovarian insufficiency (POI) associated with chromosomal abnormalities. MATERIALS AND METHODS: This was a retrospective study of POI...
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Hybrid Approach of Ruptured Type B Aortic Dissection with an Aberrant Subclavian Artery in a Single Patient with Turner Syndrome: A Case Report

Son SA, Lim KH, Kim GJ

Turner syndrome, also described as 45, X, may present with most serious cardiovascular anomalies including risk of aortic dissection and rupture. In emergency situation, management for aortic dissection with complicated...
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Dental Management in a Patient with Turner Syndrome with Dental Anomalies: A Case Report

Lee H, Shin S, Kim J, Lee D, Yang Y

Turner syndrome (TS) is a chromosomal disorder caused by monosomy of the X chromosome, with complete or partial absence of the second sex chromosome. Anomalies of root morphology have been...
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Anesthesia management in a case of Turner syndrome with anti-NMDA limbic encephalitis and multiple co-morbidities for repair of fracture femur

Gupta B, Agarwal M, Sharma R, Saith V

No abstract available.
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Partial molar pregnancy and coexisting fetus with Turner syndrome: Case report and literature review

Park JE, Park JK, Cho IA, Baek JC

Partial hydatidiform mole and coexisting fetus is a rare entity with antecedent high risk of maternal and fetal complications, and risk of persistent trophoblastic disease in later life. Here, we...
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Delayed puberty versus hypogonadism: a challenge for the pediatrician

Bozzola M, Bozzola E, Montalbano C, Stamati FA, Ferrara P, Villani A

Constitutional delay of growth and puberty (CDGP) is the most common cause of delayed puberty (DP), is mainly found in males, and is characterized by short stature and delayed skeletal...
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Design of the long-term observational cohort study with recombinant human growth hormone in Korean children: LG Growth Study

Chung S, Yoo JH, Choi JH, Rhie YJ, Chae HW, Kim JH, Hwang IT, Shin CH, Kim EY, Lee KH

PURPOSE: Regarding recombinant human growth hormone (rhGH) use in the pediatric population, no long-term follow-up data are available for Korean patients. To fill in the gap of knowledge, a registry...
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Congenital Nystagmus in Turner Syndrome

Bak H, Lee S, Oh DA, Yoon CW

No abstract available.
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Development of disease-specific growth charts in Turner syndrome and Noonan syndrome

Isojima T, Yokoya S

Many congenital diseases are associated with growth failure, and patients with these diseases have specific growth patterns. As the growth patterns of affected individuals differ from those of normal populations,...
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Diagnostic and therapeutic considerations in Turner syndrome

Yang S

Newly developed genetic techniques can reveal mosaicism in individuals diagnosed with monosomy X. Noninvasive prenatal diagnosis using maternal blood can detect most fetuses with X chromosome abnormalities. Low-dose and ultralow-dose...
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X-linked Hypophosphatemic Rickets, del(2)(q37.1;q37.3) Deletion Syndrome and Mosaic Turner Syndrome, mos 45,X/46,X, del(2)(q37.1;q37.3) in a 3-year-old Female

Vidmar AP, Miyazaki B, Sanchez-Lara PA, Pitukcheewanont P

There are currently no published cases that report concomitant Turner syndrome (TS), 2q37 deletion syndrome and X-linked hypophosphatemic rickets (XLH). Interestingly, since the clinical phenotypes of TS and 2q37 deletion...
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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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Concomitant occurrence of Turner syndrome and growth hormone deficiency

Yu J, Shin HY, Lee CG, Kim JH

Turner syndrome (TS) is a genetic disorder in phenotypic females that has characteristic physical features and presents as partial or complete absence of the second sex chromosome. Growth hormone deficiency...
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Turner syndrome with spinal hemorrhage due to vascular malformation

Yu MK, Jung MK, Kim KE, Kwon AR, Chae HW, Kim DH, Kim HS

Turner syndrome (TS) is a relatively common chromosomal disorder and is associated with a range of comorbidities involving the cardiovascular system. Vascular abnormalities, in particular, are a common finding in...
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Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene

Jung JY, Yang S, Jeong EH, Lee HC, Lee YM, Han HS, Yi KH

Turner syndrome is the most common chromosomal disorder in girls. Various phenotypic features show depending upon karyotype from normal female through ambiguous genitalia to male. Usually, Turner girls containing 45,X/46,XY...
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Noninvasive prenatal test for the pregnancy with Turner syndrome mosaicism 45, X/47, XXX: A case report

Kim JH, Lee GH, Cha DH, Cho EH, Jung YW

Noninvasive prenatal test (NIPT) is a novel screening method for the diagnosis of fetal chromosomal aneuploidies. NIPT is based on technology that detects cell-free fetal DNA in maternal plasma and...
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Renal Problems in Early Adult Patients with Turner Syndrome

Yu DU, Ku JK, Chung WY

PURPOSE: This study aimed to evaluate the status of renal function and the presence of urinary abnormalities in early adult patients with Turner syndrome (TS). METHODS: Sixty-three girls with TS, who...
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Coarctation of the Aorta Treated with Stenting in a Patient with Turner Syndrome

Park SW, Lee HC, Yi NH, Park IS, Park CH, Yu JS

Cardiovascular malformations, such as bicuspid aortic valve and coarctation of the aorta, are more prevalent in patients with Turner syndrome than in the general population. Here, we describe the case...
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