Familial sex-linked ectodermal dysplasia with incomplete forms
نویسندگان
چکیده
منابع مشابه
X-linked anhidrotic ectodermal dysplasia with some unusual features.
A total of 85 members of a family in which several individuals presented with hypodontia, hypotrichosis, and hypohidrosis were examined. Of these, 77 were evaluated clinically and the results compared with those obtained in an equal number of carefully chosen controls. The main symptoms among the affected males and females involved changes in the quantity and texture of head hair and in the dis...
متن کاملSex linked valvular dysplasia.
A family is described in which three males have been affected by congenital valvular dysplasia of one or more heart valves, in one case leading to neonatal death. The pedigree is consistent with sex linked inheritance.
متن کاملClinical Variability in Familial X-Linked Hypohidrotic Ectodermal Dysplasia with 2q12Mutation: A Rare Case Report of Female Siblings Agony
Ectodermal dysplasia is a heterogeneous hereditary disorder characterized by aplasia or dysplasia of tissues of ectodermal origin, such as skin, hair, teeth, and sweat glands and nails [1]. Ectodermal dysplasia syndrome was first described by Thurman in 1848 [2]. Although about 170 different subtypes of Ectodermal dysplasia have been recognized, these disorders are considered to be relatively r...
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: Archives of Disease in Childhood
سال: 1934
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.9.49.39