Perinatoloji Dergisi 2002; 10(1): 38-39
Online published date : 1 March 2005

Harlequın fetus: case report

Ebru TARIM, Tayfun BAĞIŞ, Esra BULGAN, Tolga ERGİN, Esra KUŞÇU
Başkent Üniversitesi Kadın Hastalıkları ve Doğum Anabilim Dalı, ANKARA

Background: Harlequin Ichtiyosis is a severe and usually fatal hereditary skin disorder. We report a case of a male harlequin fetus.

Case: The patient with 34 weeks of gestation was admitted to our hospital for labor. She was delivered male fetus with thick keratin plaques, which is split by deep fissures on its skin and makes the feature of ectropion and eclabium. His nose was flattened and the external ears were underdeveloped. The hands and feet appeared to be hipoplastic and the infant died within a few days after birth due to sepsis.

Conclusion: Prenatal diagnosis is very important in fatal hereditary disorders and diagnosis of harlequin ichtiyosis can be done by fetal skin biopsies.

Harlequin fetus