Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly: Report of a new patient with additional findings

M. Silengo, M. Lerone, G. Romeo, E. Calcagno, G. Martucciello, V. Jasonni

Research output: Contribution to journalArticlepeer-review

Abstract

A new ectodermal dysplasia syndrome was reported by Bork et al. in 1987 (Hautarzt 38:342-347). The syndrome consisted of hypotrichosis with the typical SEM (scanning electron microscopy) changes of uncombable hair, retinal pigmentary dystrophy, juvenile cataract, oligodontia, brachydactyly with brachymetacarpia; it was inherited as an autosomal dominant trait. We describe a sporadic case and add further clinical findings to expand the spectrum of this rare syndrome.

Original languageEnglish
Pages (from-to)931-933
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume47
Issue number6
DOIs
Publication statusPublished - 1993

Keywords

  • autosomal dominant inheritance
  • ectodermal dysplasia
  • hyperdontia
  • mental retardation

ASJC Scopus subject areas

  • Genetics(clinical)

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