Clinical Presentation of Down’s syndrome: A case report

Mathew, Anoop Kurian; Amaladas, ntony Shijoy; Ahmed, Anis; Hameed, Shaul

doi:10.31254/jmr.2017.3304

Cited by 2 publications

(4 citation statements)

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“…Development of DS brain is associated with reduction in the neuronal number and abnormal neuronal differentiation. It has been previously reported that DS neuron degenerate subsequently and undergoes apoptosis [4]. The mental retardation with full trisomy 21 is found in almost all patients, and it is basically oligophrenia at the stage of imbecility (65-90%).…”

Section: Reviewmentioning

confidence: 96%

“…When screening by nuchal translucency (NT), about 83% of trisomy 21 pregnancies were identified in the first trimester. Later, it was revealed that screening by a combination of maternal age, NT and bitest (PAPP-A with second trimester β-hCG) or tri-test [alpha-fetoprotein (AFP), estriol and free β-hCG] has a potential sensitivity of 94% for a 5% false positive rate [4,33]. However, Ruei-Yu Lan et al, reported about multicenter study of 29,137 cases that enrolled the chromosomal abnormality screening from Taipei city.…”

Section: Reviewmentioning

confidence: 99%

“…Among all cases of birth defects in the life of stillbirths in Ukraine for 2002-2015, almost every 2 nd case referred to chromosomal pathology. The main clinical chromosomal syndromes include: Down syndrome (DS) -trisomy 21 -prevalence 1:400-1:1,500 newborns, Klinefelter syndrome (KS) -karyotype 47, XXY with a frequency of 1:500-1,000 newborn boys, Turner syndrome (TS) -karyotype 45,X with a frequency of 1:2,000-5,000 newborn girls [2][3][4][5][6]. Among the viable newborns, 1 of 400 boys and 1 of 650 girls have different forms of aneuploidy by sex chromosomes.…”

Section: Introductionmentioning

confidence: 99%

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Chromosomal Diseases in the Human Pathology

Bihunyak

Bondarenko

Kulyanda

et al. 2020

IJMMR

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Background. Chromosomal diseases are the cause of 45-50 % of multiple birth defects. Basic research on mutations is performed using genomic technologies to identify a correlation between genotype and phenotype in aneuploidies and to understand its pathogenesis. Objective. The aim of the research is to study the etiology, pathogenesis of symptoms and diagnostics for patients with Down, Klinefelter, Turner syndromes and double aneuploidies by 21 and sex chromosomes. Methods. A literature review by the keywords “Down syndrome”, “Klinefelter syndrome”, “Turner syndrome”, “double aneuploidy” for the period of 2000-2020 was carried out. Results. Down, Klinefelter and Turner syndromes are the most common aneuploidy among viable newborns. Frequency of meiotic non-disjunction events causing these aneuploidies increases with the age of a woman. Identified genes are responsible for pathogenesis of symptoms in trisomy 21, Turner and Klinefelter syndromes. Diagnostics of chromosomal diseases includes prenatal screening programs and postnatal testing. Conclusions. Cytogenetic variants of Down syndrome are simple complete trisomy 21, translocation form and mosaicism. Trisomy 21 is associated with advanced maternal age. Phenotypic manifestations of Down syndrome are associated with the locus 21q22. The maternal and parental nondisjunction of X-chromosomes in meiosis causes Klinefelter and Turner syndromes. These chromosomal diseases are variants of intersexualism with intermediate chromosomal sex. Down-Klinefelter and Down-Turner syndromes are double aneuploidies. Patients have a Down syndrome phenotype at birth, and signs of Klinefelter and Turner syndromes occur during puberty. Diagnosis of aneuploidy is based on the cytogenetic investigation (karyotyping), DNA analysis, ultrasonography and biochemical markers of chromosomal pathology.

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Section: Reviewmentioning

confidence: 96%

Section: Reviewmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Chromosomal Diseases in the Human Pathology

Bihunyak

Bondarenko

Kulyanda

et al. 2020

IJMMR

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“…The tonsils and adenoids also grown in size. Dental anomalies among DS individuals are frequently associated with tooth morphology, such as a decreased root to crown ratio, decreased tooth size, hypodontia or partial anodontia, and delayed eruption (Mathew et al, 2017;Rai et al, 2022).…”

Section: Introductionmentioning

confidence: 99%

Unilateral Impaction of Mandibular Canine in a Down Syndrome Patient: A Case Report

Alzahrani,

Bhat

2024

Journal of Disability Research

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A 12-year-old female patient, with large nasal bridge, mongoloid slants, clinodactyly, saddle gap of toes, slanting palpebral fissures, and a flat facies with ocular hypertelorism was reported. The patient’s medical history showed intellectual impairment, hypothyroidism, and allergy to penicillin and cow milk. Intraoral examination revealed that there was severe crowding, with Angles class I Dewey’s modification type I. A radiographic examination showed that the root of tooth 44 has sharp dilaceration toward the mesial in the apical third. Impacted canines were measured approximately 17.5 mm from the cusp till root apex. Treatment plan included prescription for pain relief. Oral prophylaxis was followed by root canal treatment and full coverage restoration. Induced eruption was planned. This case report provides insight into various oral conditions associated with Down syndrome (DS). The treatment was challenging and it needed a comprehensive approach with a preventive dentistry practice and regular screening. Dental practitioners should be aware of DS and its effect on oral health with the main focus on an effective treatment plan.

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Clinical Presentation of Down’s syndrome: A case report

Cited by 2 publications

References 4 publications

Chromosomal Diseases in the Human Pathology

Chromosomal Diseases in the Human Pathology

Unilateral Impaction of Mandibular Canine in a Down Syndrome Patient: A Case Report

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