Genetic counselling of a male patient with hypohidrotic ectodermal dysplasia
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چکیده
منابع مشابه
Genetic counselling of a male patient with hypohidrotic ectodermal dysplasia
Hypohidrotic ectodermal dysplasias (HED) are characterized by abnormal morphogenesis of epidermis and epidermal appendages. They may be inherited in an autosomal dominant, autosomal recessive or X-linked recessive manner. The most common type shows Xlinked inheritance, and males.are usually more severely affected than females. In a male infant who was treated in our department, the diagnosis of...
متن کاملHypohidrotic ectodermal dysplasia.
X linked hypohidrotic ectodermal dysplasia was studied in the dentition of both affected males and carrier females. Hypodontia was more severe in males than females and there were differences in the pattern of tooth absence between the sexes. Abnormal crown form, with the maximum diameter of the teeth being apically displaced, was noted particulady in the anterior teeth. Taurodontism was common...
متن کاملHypohidrotic ectodermal dysplasia--a case report.
A case presented here is that of a nine year old male patient with total anodontia. Findings of this case as regards to the orofacial, radiographic and other general manifestations were suggestive of hypohidrotic ectodermal dysplasia. The dental problems were best managed by prosthetic replacement of dentition taking into consideration a design which would provide adequate relief for the preser...
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 کاملHypohidrotic ectodermal dysplasia: a clinical case with a longitudinal approach.
AIM This paper describes a clinical case of a male with hypohidrotic ectodermal dysplasia submitted to rehabilitation and occlusal dental interventions with follow-up from 3 to 14 years of age. BACKGROUND Due to the severe effects on function and esthetics, the clinical manifestations of ectodermal dysplasia exert a negative impact on quality of life. However, oral rehabilitation in childhood...
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ژورنال
عنوان ژورنال: Head & Face Medicine
سال: 2012
ISSN: 1746-160X
DOI: 10.1186/1746-160x-8-s1-p4