New, autosomal dominant form of ectodermal dysplasia

Authors

  • Dr. Gordon A. Tuffli,

    Corresponding author
    1. Department of Pediatrics, University of Wisconsin Clinical Science Center and Harry A. Waisman Center on Mental Retardation and Human Development, Madison, Wisconsin
    • Madison Medical Center, Suite 303, 2050 Park Street. Madison. WI 53715
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  • Renata Laxova,

    1. Department of Medical Genetics, University of Wisconsin Clinical Science Center and Harry A. Waisman Center on Mental Retardation and Human Development, Madison, Wisconsin
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  • John M. Opitz

    EditorSearch for more papers by this author

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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