Late-onset localized junctional epidermolysis bullosa and mental retardation: A distinct autosomal recessive syndrome

S. Nakar, A. Ingber, I. Kremer, E. Hodak, B. Z. Garty, E. Ben-David, M. David, M. Shohat

Research output: Contribution to journalArticlepeer-review

Abstract

We present 2 sibs with a local junctional type of epidermolysis bullosa associated with enamel defect of the teeth, dystrophic nails of the feet, and mental retardation. Subluxation of the lenses was evident in 1 of them. This combination found in a brother and a sister seems to represent a distinct autosomal recessive type of epidermolysis bullosa.

Original languageEnglish
Pages (from-to)776-779
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume43
Issue number5
DOIs
StatePublished - 1992
Externally publishedYes

Keywords

  • dystrophic nails
  • enamel defect of the teeth
  • lens subluxation

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