Rom J Morphol Embryol 2017, 58(4):1555–1559 ISSN (print) 1220–0522 ISSN (online) 2066–8279 CASE REPORT Cyclopia and proboscis – the extreme end of holoprosencephaly ANDREI MIHAI MĂLUŢAN 1) , MARINA DUDEA 1) , RĂZVAN CIORTEA 1) , MIHAELA MUREŞAN 2) , CARMEN ELENA BUCURI 1) , CARINA MIHU 1) , DAN MIHU 1) 1) 2 nd Obstetrics and Gynecology Department, “Iuliu Haţieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania 2) Department of Pathology, Emergency County Hospital, Cluj-Napoca, Romania Abstract Holoprosencephaly (HPE), a major congenital abnormality in brain development is characterized by the absence or incomplete cleavage of prosencephalon into separate hemispheres, with cyclopia as the extreme manifestation of HPE, presenting as a failure of embryonic prosencephalon to properly divide the orbits of the eye in two cavities. We report the case of a 15-year-old pregnant patient, who delivered a 34-week living fetus with alobar HPE, cyclopia and proboscis. The patient did not have any routine scans during pregnancy; her first obstetrical exam was performed at 29 weeks of gestation (WG), when a prenatal ultrasound found a fetus with alobar HPE, cyclopia, proboscis, polydactyly and single umbilical artery. Despite adequate medical and genetic counseling, the patient and her legal representative refused further investigations – magnetic resonance imaging and genetic testing. She was admitted to the hospital at 34 WG for premature rupture of membranes, with clear amniotic fluid. Twenty-four hours later, she delivered vaginally a living male fetus, weighing 1995 g. Macroscopic examination revealed umbilical cord with two vessels, fetal proboscis, cyclopia, low implanted ears, bilateral polydactyly of the upper limbs, spina bifida occulta in the sacral region. The newborn lived for 40 minutes. Microscopy of the eyeball revealed choroid, ciliary body and conjunctiva structures, with no identification of the retina, and no evidence of the optic nerve in the fragments obtained from the optic chiasm region. This case underlines the importance of early obstetrical examinations during pregnancy and raises concerns about the ethics of allowing therapeutic termination of pregnancy after 24 WG in selected cases. Keywords: alobar holoprosencephaly, cyclopia, proboscis, live newborn, polydactyly, spina bifida occulta.  Introduction Holoprosencephaly (HPE) is a major congenital malformation, characterized by the absence or incomplete cleavage of the prosencephalon into separate hemispheres [1]. It occurs between the 18 th and 28 th day of gestation [2]. Depending on the severity of the condition, HPE is subdivided in the lobar, semilobar and alobar forms. Cyclopia is an extreme manifestation of HPE, defined as the failure of the embryonic prosencephalon to properly divide the orbits of the eye in two cavities [3, 4]. While HPE affects one in 16 000 live newborns, cyclopia is seen as rarely as one in 100 000 newborns, including stillbirth [5, 6]. Cyclopia, usually incompatible with postnatal life, is most frequently diagnosed during the first trimester ultrasound scan, allowing early termination of pregnancy and thus avoiding maternal psychological trauma of giving birth to a deformed fetus [7]. This case report aims to present a rare case of a fetus with alobar HPE, showing typical facial manifestations, such as cyclopia and proboscis, and associating extra- cranial malformations.  Case presentation We report the case of a 15-year-old pregnant woman, who delivered a 34-week living fetus with alobar HPE, cyclopia and proboscis. This case report was approved by the Local Ethics Committee of “Iuliu Haţieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania, and signed informed consent was obtained from the patient for publication of this case report and accompanying images. A 15-year-old G2P1 pregnant woman, who had experienced in her obstetrical history one spontaneous abortion at eight weeks of gestation (WG), presented for her first obstetrical examination in pregnancy at 29 WG. Prenatal ultrasound revealed a fetus with alobar HPE (Figure 1), cyclopia, proboscis, polydactyly and single umbilical artery. The patient did not have any routine scans during the current pregnancy. Figure 1 – Prenatal transabdominal ultrasound of the fetal head at 29 gestational weeks. Alobar holopros- encephaly and macrocephaly are noted. R J M E Romanian Journal of Morphology & Embryology http://www.rjme.ro/