A gershoni-baruch syndrome variant or a new association

Abstract

A pregnant woman with no previous routine pregnancy follow-up referred to our obstetrics clinic. Ultrasonography revealed the presence of a fetal heartbeat 26 weeks and 4 days old. Polyhydramnios, omphalocele, a diaphragmatic hernia, left ventricular hypoplasia, an occipital bone defect, a fetal head in severe retroflexion, and exaggerated cervicothoracic lordosis were detected in the fetus. After obtaining parental consent, the board decided to terminate the pregnancy. An examination performed after the termination revealed that the fetus was female and weighed 780 g. The first phalanx of the left thumb was hypoplastic. An X-ray examination showed coat hanger–shaped costal fusions and cranial structures consistent with iniencephaly. Fetus karyotyping revealed a normal 46, XX female karyotype. We speculate that this case represents a variant of Gershoni-Baruch syndrome.