Ocular manifestations of the ectrodactyly, ectodermal dysplasia, cleft lip-palate syndrome.
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Abnormalities, Multiple↗
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Results for “ECTODERMAL DYSPLASIA”
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Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia.
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Agammaglobulinemia↗
[An unusual form of hypohidrotic ectodermal dysplasia with an apparently normal number of dysplasic sweat glands and morphological skin anomalies].
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Child, Preschool↗
[An electromyographic evaluation of ectodermal dysplasia after oral rehabilitation].
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Anodontia↗
Both recessive and dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13.
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Child↗
[Ectodactylia-ectodermal dysplasia, cleft lip, jaw and palate syndrome (EEC syndrome). Association with van der Woude syndrome?].
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Abnormalities, Multiple↗
[Anhidrotic ectodermal dysplasia as autosomal recessive trait in one Ewe isolate at Togo (33 cases in 23 families)].
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Adolescent↗
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome. Its association with conductive hearing loss.
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Abnormalities, Multiple↗
[Anhidrotic ectodermal dysplasia or Christ-Siemens-Touraine syndrome. A case report].
A case of anhydrotic dysplasia is reported. The history of the syndrome is reviewed and the possibility of identifying carriers of the gene that causes it discussed.
Ectodermal Dysplasia↗
The breakpoints of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) confirmed to 7q11.21 and 9p12 by fluorescence in situ hybridization.
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Abnormalities, Multiple↗
[Ectrodactyly, ectodermal dysplasia, and cleft lip and palate: an hereditary syndrome with an autosomal dominant mode of inheritance (author's transl)].
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Abnormalities, Multiple↗
Common mutations in Arg304 of the p63 gene in ectrodactyly, ectodermal dysplasia, clefting syndrome: lack of genotype-phenotype correlation and implications for mutation detection strategies.
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Adult↗
Dermoodontodysplasia: an eleven-member, four generation pedigree with an apparently hitherto undescribed pure ectodermal dysplasia.
A Caucasian family was verified to have 11 affected persons (7 women and 4 men) in four generations. A mild and variable clinical picture (dry, thin skin, dental involvement, and nail alteration) was verified in all the affected, with the exception of the propositus who has a more severe clinical picture, besides also having trichodysplasia. The segregation ratio (11 normal: 10 affected) verified in the offspring of the affected and other criteria permit the hypothesis of an autosomal dominant gene. This pure dysplasia was compared to 27 other conditions belonging to the tricho-odonto-onychial subgroup and proved to be different from all the others.
Adult↗
Use of endosseous implants in a 3-year-old child with ectodermal dysplasia: case report and 5-year follow-up.
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Alveolar Ridge Augmentation↗
The syndrome of ectrodactyly, ectodermal dysplasia and cleft lip and palate: report of a family demonstrating a dominant inheritance pattern.
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Abnormalities, Multiple↗
[Anhidrotic ectodermal dysplasia].
The case of an hyperthermia-induced sudden death in an infant with anhidrotic dysplasia is reported. This disease, easily diagnosed, should now be better known and its early assessment, with thermal monitoring might improve the initial severe prognosis. A genetic counselling might be possible.
Ectodermal Dysplasia↗
Novel CNS syndrome and ectodermal dysplasia.
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Brain↗
Cortical periventricular heterotopia with ectodermal dysplasia.
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Abnormalities, Multiple↗