2009•Chinese Journal of Birth Health & HeredityRequires access

Hypohidrotic ectodermal dysplasia with X-linked recessive inheritance in a family:Case report and relative review

Liu Xiao-y

Abstract

Objective:To investigate the genetic pattern of a inheritary hypohidrotic ectodermal dysplasia in a family.Methods: All individuals were investigated by genetic and medical methods.Results: There were 4 patients in the pedigrees which include 4 degrees and 27 individuals,primary symptom of patients was sparse hair,body hair,without normal sweat production and tooth abnormalities.Pedigree analysis indicated that the pedigrees was a X-linked recessive inheritary hypohidrotic ectodermal dysplasia.Conclusion: Gene(such as ED1,NEMO etc) abnormality in X chromosome may be involved in the disease.

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Key concepts: Hypohidrotic ectodermal dysplasia, Ectodermal dysplasia, Pedigree chart, Genetics, Autosomal recessive inheritance, Inheritance (genetic algorithm), Abnormality, Dermatology