Report of a family with a Harlequin newborn from Iran

Abstract

Harlequin Ichthyosis is a dermal disorder that always lead to an early death after birth. Although the clinical characteristics of this disorder has been described perfectly but the molecular basis of which isn't clear well. Harlequin fetus is an Autosomal recessive trait and prenatal diagnosis is possible by embryo skin biopsy after fetoscopy. This case was a male newborn who died 4 days after the birth. The parents of the infant have a consanguineous marriage and live in a village around Shahrood (East of Iran). This family had also another infant with same disorder, who died also on 4 days of her life but they have a 7 years old healthy girl.