New syndrome of congenital ichthyosis with neurologic abnormalities

J. Zunich, C. I. Kaye

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Abstract

A 3 1/2 -year-old boy with migratory ichthyosiform rash, cleft palate, hypertelorism, bilateral retinal colobomata, large size, seizure disorder, and developmental delay is described. Diagnostic possibilities include Netherton disease, erythrokeratodermia variabilis and intrauterine exposure to aflatoxin assay. Netherton disease is ruled out by microscopically normal hair shafts. Although erythrokeratodermia variabilis has been reported in association with neurologic abnormalities, development is usually normal and other congenital defects are rare. The association of the dermatologic and neurologic abnormalities together with cleft palate, retinal colobomata, and bifid tooth suggests presence of a neuroectodermal syndrome.

Original languageEnglish (US)
Pages (from-to)331-333
Number of pages3
JournalAmerican journal of medical genetics
Volume15
Issue number2
DOIs
StatePublished - Jan 1 1983

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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