Literature DB >> 3777024

An unusual case of ectodermal dysplasia.

F Cortes, Y Lacassie.   

Abstract

The syndrome was characterized by striking hypoplasia of nails, malformations of hands and feet, curly hair, small lower teeth and seizures. There were no similarly affected relatives. Death occurred at 31 months with the patient apparently in status epilepticus with terminal hepatorenal syndrome.

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Year:  1986        PMID: 3777024     DOI: 10.1002/ajmg.1320250213

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


  1 in total

1.  Hypohidrotic ectodermal dysplasia, central nervous system malformation, and distinct facial features: confirmation of a distinct entity?

Authors:  D Soekarman; J P Fryns
Journal:  J Med Genet       Date:  1993-03       Impact factor: 6.318

  1 in total

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