Journal of Oral Science Research ›› 2018, Vol. 34 ›› Issue (9): 995-997.DOI: 10.13701/j.cnki.kqyxyj.2018.09.018

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Phenotypic and Genetic Features Analysis of Hypohidrotic Ectodermal Dysplasia Pedigrees with Athelia.

XU Dong-wei, LIN Yao*.   

  1. Xiamen Stomatology Hospital, Hospital and School of Stomatoloy, Xiamen Medical University, Xiamen 361003, China.
  • Received:2018-03-08 Online:2018-09-28 Published:2018-09-25

Abstract: Objective: To analyze the genetic and clinical features of hypohidrotic ectodermal dysplasia (HED) pedigree with athelia. Methods: The pedigree was collected through proband reporting. The genetic and clinical characters were summarized through medical examination and pedigree analysis. Results: One HED family with athelia was reported in this study. Patients suffered with hypohidrosis, severe tooth agenesis, onychogryphosis, and nipple deformity. The inheritance mode excluded the X-linked recessive manner. Conclusion: The reported HED pedigree with athelia has typical clinical symptoms.

Key words: Hypoplastic ectodermal dysplasia , Athelia Pedigree investigation , Proband, Phenotype