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 journalArticle

10 Citations (Scopus)

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

Fingerprint

Hypotrichosis
Brachydactyly
Retinal Dystrophies
Ectodermal Dysplasia
Electron Scanning Microscopy
Hair
Cataract
Bork Stender Schmidt syndrome

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly : Report of a new patient with additional findings. / Silengo, M.; Lerone, M.; Romeo, G.; Calcagno, E.; Martucciello, G.; Jasonni, V.

In: American Journal of Medical Genetics, Vol. 47, No. 6, 1993, p. 931-933.

Research output: Contribution to journalArticle

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