Abstract
This case report describes a unique case of Peter's anomaly in a child with Kabuki make-up syndrome. Kabuki makeup syndrome can be identified on the basis of the following eye findings: lateral lower lid ectropion; high-arched eyebrows; and sparse hair in the lateral third of the eyebrow. These physical findings are highly characteristic, but subtle. We present a boy with signs of Kabuki makeup syndrome and Peter's anomaly. Clinicians should be aware of the features of Kabuki makeup syndrome and the possible association with Peter's anomaly. Kabuki makeup syndrome is commonly overlooked as a diagnosis, but its recognition may considerably aid families in planning social and developmental support. We discuss the relationship of Peter's anomaly to Kabuki makeup syndrome and other systemic, genetic diseases.
