OEIS complex associated with chromosome 1p36 deletion: A case report and review†

OEIS complex (Omphalocele, Exstrophy of the cloaca,Imperforate anus, and Spine abnormalities) is a rare defect withestimated incidence of 1 in 200,000 live births. Most cases aresporadic, with no obvious cause. However, it has been rarelyreported in patients with family members having similar mal-formations or with chromosomal anomalies. In addition, OEIScomplex has been observed in association with environmentalexposures, twinning, and in vitro fertilization. Monosomy 1p36is the most common terminal deletion syndrome, with a preva-lence of 1 in 5,000 newborns. It is characterized by specific facialfeatures,developmentaldelay,andheart,skeletal,genitourinary,and neurological defects. We describe an infant with OEIScomplex and 1p36 deletion who had features of both disorders,including omphalocele, cloacal exstrophy, imperforate anus,sacral multiple segmentation, renal malposition and malrota-tion, genital anomalies, diastasis of the symphysis pubis, micro-brachycephaly, large anterior fontanel, cardiac septal defects, ribfusion, a limb deformity, developmental delay, and typical facialfeatures. Chromosomal microarray analysis detected a 2.4 Mbterminal deletion of chromosome 1p. This is the first reportedcase with OEIS complex in association with a chromosome 1p36deletion.