Heterozygote manifestations in X-chromosomal ectodermal dysplasia
نویسندگان
چکیده
منابع مشابه
Heterozygote manifestations in X-chromosomal ectodermal dysplasia
About 60-70 % of the heterozygotes of X-linked hypohidrotic ectodermal dysplasia (XLHED) show some clinical manifestations of the disease. Dental abnormalities are key diagnostic features and can be best evaluated at a young age. Compared to controls, carriers have a significantly higher frequency of agenesis of permanent teeth with persistence of deciduous teeth, small teeth resulting in gaps ...
متن کاملOtologic manifestations of ectodermal dysplasia.
OBJECTIVES To determine the range and prevalence of otologic disorders in patients with ectodermal dysplasia (ED) and provide a general review of its multiple otolaryngological manifestations. DESIGN Case series. SETTING Ectodermal dysplasia family conference. PATIENTS Sixty-nine individuals with ED were evaluated. The average age was 11 years (range, 1-56 years). Most were male patients ...
متن کاملOphthalmic manifestations in patients with ectodermal dysplasia syndromes.
BACKGROUND Ectodermal dysplasia (ED) is a disorder that results from abnormal formation of at least two of the four major ectodermal derivatives in the developing embryo. The ectoderm of the embryo forms the skin, teeth, hair and nails, sweat glands and part of the eyes. OBJECTIVES The aim of this article is to reveal ophthalmologic symptoms and signs as multidisciplinary, reliable criteria f...
متن کاملPossible genetic heterogeneity in X linked hypohidrotic ectodermal dysplasia.
Hypohidrotic ectodermal dysplasia has been mapped to Xq11-q13 by linkage studies and by a translocation in a manifesting female. We report a family with hypohidrotic ectodermal dysplasia in which the disease did not segregate with this region of the X chromosome as expected. Ten DNA probes which are localised between Xp11 and Xq22 were used in the investigation. The difficulties in diagnosing t...
متن کاملLung and eye involvement in X-linked hypohidrotic ectodermal dysplasia
Objective X-linked hypohidrotic ectodermal dysplasia (XLHED; ectodysplasin deficiency) has been classically described as affecting hair, sweat glands and dentition. What may be underappreciated is the effect ectodysplasin deficiency has on glands surrounding the airways and eyes and the resulting chronic health issues. In this study, we evaluated respiratory and ocular symptoms in XLHED patients.
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ژورنال
عنوان ژورنال: Head & Face Medicine
سال: 2012
ISSN: 1746-160X
DOI: 10.1186/1746-160x-8-s1-i11