Search results for "Mental deficiency"

showing 4 items of 4 documents

Dyskephalie-Katarakt-Hypotrichose-Syndrom (Synonyma: DCH; Ullrich-Fremerey-Dohna; Hallermann-Streiff; Francois)

1976

In a 43-year-old man dyscephalia, cataracta congenita, and hypotrichosis were the outstanding features. These signs were first described in 1953 by Ullrich and Fremerey-Dohna as a clinical entity. Since 1958 the DCH syndrome was published under the synonyms of “Francois syndrome” and of “Hallermann-Streiff syndrome”. However, as these authors did not add any essential details relevant for the classification of the syndrome we prefer to retain the term “Ullrich-Fremerey-Dohna syndrome”. In our case in addition to the above mentioned and well known manifestations, extrapyramidal hyperkinesia of the choreoanthetotic type and servere mental deficiency accompanied by mild cerebral atrophy (revea…

Cerebral atrophyPediatricsmedicine.medical_specialtyFrancois syndromebusiness.industrymedicine.diseaseMental deficiencyNeurologymedicineHypotrichosisNeurology (clinical)medicine.symptombusinessPsychiatryHyperkinesiaJournal of Neurology
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Fragile X-syndrome: literature review and report of two cases

2009

Fragile X-syndrome is caused by a mutation in chromosome X. It is one of the most frequent causes of learning disability. The most frequent manifestations of fragile X-syndrome are learning disability, different orofacial morphological alterations and an increase in testicle size. The disease is associated with cardiac malformations, joint hyperextension and behavioural alterations. We present two male patients aged 17 and 10 years, treated in our Service due to severe gingivitis. Both showed the typical facial and dental characteristics of the syndrome. In addition, we detected the presence of root anomalies such as taurodontism and root bifurcation, which had not been associated with frag…

Deficiència mentalAnomalies cromosòmiquesMental deficiencyDental abnormalitiesChromosome abnormalitiesMalalties hereditàriesMalformacions dentalsUNESCO:CIENCIAS MÉDICASGenetic diseases
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Array-CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features

2010

MalePediatricsmedicine.medical_specialtyAdolescentDNA Mutational AnalysisSettore MED/38 - Pediatria Generale E SpecialisticaGene DuplicationIntellectual DisabilityGene duplicationGeneticsmedicinePervasive developmental disorderHumansArray comparative genomic hybridization autistic disorder 1p duplication mental retardationChildGenetics (clinical)In Situ Hybridization FluorescenceGeneticsChromosome AberrationsComparative Genomic HybridizationModels Geneticbusiness.industryChromosomemedicine.diseaseDevelopmental disorderMental deficiencyPhenotypeAutism spectrum disorderChild Development Disorders PervasiveChromosomes Human Pair 1MutationAutismbusinessComparative genomic hybridization
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Oral myiasis: a case report in a child with cerebral palsy

2010

This case report added Myiasis is a parasitic disease that affects humans and other vertebrates. A rare condition in humans, myiasis is a worldwide phenomenon, with a higher incidence being observed in tropical and subtropical regions. Oral myiasis is rarely observed in children, is uncommon in the oral cavity, more specifically periodontal tissue. This uncommon condition is more prevalent in tropical and subtropical American and others country where low socioeconomic conditions, residence in rural areas, mental deficiency and precarious hygiene conditions. This case reports a reality of a child with cerebral palsy in a Public Hospital in São Luis, Ma, Brasil.

Pediatricsmedicine.medical_specialtybusiness.industrymedia_common.quotation_subjectIncidence (epidemiology)OdontologíaOral cavitymedicine.disease:CIENCIAS MÉDICAS [UNESCO]Ciencias de la saludCerebral palsySurgeryMental deficiencyHygieneParasitic diseaseUNESCO::CIENCIAS MÉDICASmedicineRural areaMyiasisbusinessGeneral Dentistrymedia_common
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