Literature DB >> 6837633

Brief clinical report: new, autosomal dominant form of ectodermal dysplasia.

G A Tuffli, R Laxova.   

Abstract

We describe a 15-year-old boy with an ectodermal dysplasia syndrome (EDS) associated with unilateral adrenal cyst. The EDS combination of aplasia cutis verticis, hypohidrosis, nipple/breast hypoplasia, onychodysplasia, and delayed dental eruption with minor tooth anomalies has not been previously reported as an autosomal dominant trait. The association with adrenal cyst may alert other units to review their experience to determine if such combination is more than a coincidence.

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Year:  1983        PMID: 6837633     DOI: 10.1002/ajmg.1320140219

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  1 in total

1.  The phenotypic characteristics of patients with athelia and tooth agenesis.

Authors:  Xiaoling Chen; Yan Xiang; Lvli Yang; Yao Lin
Journal:  Ann Transl Med       Date:  2021-10
  1 in total

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