Peter's anomaly in a child with Kabuki make-up syndrome: a case report and review of the literature

Abstract

This case report describes a unique case of Peter's anomaly in a child with Kabuki make-up syndrome. Kabuki make-up 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 make-up syndrome and Peter's anomaly. Clinicians should be aware of the features of Kabuki make-up syndrome and the possible association with Peter's anomaly. Kabuki make-up 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 make-up syndrome and other systemic, genetic diseases.