Suspected Clinical Ellis-Yale-Winter Syndrome in an Infant With Unilateral Renal Agenesis, Contralateral Renal Ectopia, Microcephaly, and Congenital Heart Defects: A Case Report

Ellis-Yale-Winter syndrome (EYWS) is an exceptionally rare multiple congenital anomaly syndrome characterized by microcephaly and congenital heart disease, variably associated with unilateral renal agenesis and abnormal pulmonary lobation.Its phenotype derives from a single original sibship, no validated diagnostic criteria exist, and no causative gene has been established.We report a male infant with congenital microcephaly, right renal agenesis with a contralateral ectopic solitary kidney, congenital heart defects, craniofacial dysmorphic features, and neurological abnormalities.The findings showed phenotypic overlap with the original cases, leading a multidisciplinary team to a suspected clinical diagnosis of EYWS.This diagnosis is not molecularly confirmed, as no genetic testing was performed.Pulmonary lobation and segmentation could not be assessed, which is a major limitation; their presence or absence cannot be inferred.The contralateral renal ectopia may represent a coincidental malformation or a hypothetical phenotypic variant.Long-term outcome and vital status are undetermined.This report does not establish new diagnostic features or an expanded phenotypic spectrum.Dedicated pulmonary imaging, exome or genome sequencing, DNA banking, and longitudinal follow-up are recommended in future cases.