Hair as a diagnostic tool in dysmorphology

Clin Genet. 2002 Oct;62(4):270-2. doi: 10.1034/j.1399-0004.2002.620403.x.

Abstract

Clinical diagnosis in dysmorphology is made by the recognition of a specific pattern of malformations and through an analytic search for discrete features. We present our personal experience regarding the usefulness of hair morphology as a tool for diagnosis in some metabolic and malformation syndromes. These cases represent only a few illustrative examples; an exhaustive review of the topic can be found elsewhere.

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Child
  • Child, Preschool
  • Diagnostic Techniques and Procedures
  • Ectodermal Dysplasia / diagnosis
  • Female
  • Hair / abnormalities*
  • Hair / anatomy & histology
  • Humans
  • Male
  • Menkes Kinky Hair Syndrome / diagnosis
  • Mitochondrial Diseases / diagnosis
  • Syndrome