Wolf-Hirschhorn syndrome (WHS): A history in pictures

Agatino Battaglia, J. C. Carey, D. H. Viskochil, P. Cederholm, J. M. Opitz

Research output: Contribution to journalArticlepeer-review

Abstract

The Wolf-Hirschhorn syndrome (WHS) is a well known chromosomal disorder, due to a deletion of distal chromosome 4p. The classical gestalt is striking and poses few diagnostic problems. However, due to the difficulty of detecting very small deletions by standard cytogenetics, diagnosis can be sometimes very difficult, particularly in older patients. In this paper we show the changes, occurring over time, in facial appearance of affected individuals, to improve insights into the evolution of the phenotype, and to increase its diagnostic potential.

Original languageEnglish
Pages (from-to)25-30
Number of pages6
JournalClinical Dysmorphology
Volume9
Issue number1
Publication statusPublished - 2000

Keywords

  • Change with age
  • Clinical phenotype
  • Deletion 4p syndrome
  • Wolf-Hirschhorn syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pediatrics, Perinatology, and Child Health
  • Anatomy

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