Journal of Advances in Medicine and Medical Research

Aims: The purpose of this study is to present a case of Harlequin fetus, which is extremely rare.
Presentation of Case: A 27-year-old woman, gravida 3 para 1, was referred to the clinic with a diagnosis of preterm premature rupture of membranes. Upon ultrasound examination, a fetus with oligohydramnios at 30 weeks of pregnancy was determined. Fetal cardiac activity was present. The fetal nose and ears could not be visualized. The fetal mouth was opened wide and the lips were invisible. The wrists of the upper extremities were edematous. A cesarean section was performed, and a female fetus weighing 1140 g, 44 cm in length, and with 1st and 5th minutes Apgar scores of 6–8 was delivered. The fetal body was covered with dense keratin plaques, her eyes were in ectropion, and her nose and ears were also covered by thick keratin plaques. Eclabium lips, edematous wrists on the extremities, and the hands and feet in flexion were observed. The fetus died 24 hours later in the neonatal intensive care unit. The mother said that her second baby had the same conditions and died on postpartum day one.
Discussion and Conclusion: Harlequin ichthyosis is extremely rare and is a severe congenital anomaly that has autosomal recessive inheritance patterns. Prenatal diagnosis can be based on the ultrasound findings and parents’ family history; this can contribute to our understanding of the disease and progress of pregnancy.