Three siblings with Harlequin Ichthyosis in an Indian family

Early Hum Dev. 1996 Jul 19;45(3):229-33. doi: 10.1016/0378-3782(96)01733-1.

Abstract

The Harlequin fetus is a distinct genetic entity with a strikingly grotesque appearance. Three siblings (two males, one female) with Harlequin Ichthyosis, a rare form of congenital disorder, born to the same parents are presented. The genetic aspects are discussed and the relevant literature is reviewed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics
  • Female
  • Humans
  • Ichthyosis / epidemiology
  • Ichthyosis / genetics*
  • India
  • Infant, Newborn
  • Karyotyping
  • Male