Literature DB >> 8533843

"New" ectodermal dysplasia with mental retardation and syndactyly.

H G Ilyina1, D S Amoashy, H A Grygory.   

Abstract

We describe a girl with an unusual form of ectodermal dysplasia. She was mildly mentally retarded, had normal height, weight, and head circumference, a large scalp defect, a peculiar face with large palpebral fissures, a broad nasal bridge and constantly open mouth, abnormally-modeled ears, syndactyly of fingers/toes, mild hypohidrosis, and severe onychogryposis. Her hair was short, abundant, and stiff, her eyebrows were sparse, and her skin was dry. Analysis of the literature showed that this type of association of ectodermal dysplasia and other defects has not been previously described.

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Year:  1995        PMID: 8533843     DOI: 10.1002/ajmg.1320580408

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


  1 in total

1.  Ectodermal dysplasia-cutaneous syndactyly syndrome maps to chromosome 7p21.1-p14.3.

Authors:  Muhammad Tariq; Muhammad Nasim Khan; Wasim Ahmad
Journal:  Hum Genet       Date:  2009-02-17       Impact factor: 4.132

  1 in total

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