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

Authors

  • Noel D Saks University of California School of Medicine, San Francisco, CA, USA.
  • Susan M Carden Department of Pediatrics, Royal Children's Hospital, Melbourne, Australia.
  • Mahin Golabi University of California School of Medicine, San Francisco, CA, USA.
  • William V Good The Smith Kettlewell Eye Research Institute, San Francisco, CA, USA.

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.

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Published

1998-12-01

How to Cite

1.
Saks ND, Carden SM, Golabi M, Good WV. Peter’s anomaly in a child with Kabuki make-up syndrome: a case report and review of the literature. Hong Kong J Ophthalmol [Internet]. 1998Dec.1 [cited 2021Feb.27];2(1):43-5. Available from: https://hkjo.hk/index.php/hkjo/article/view/162

Issue

Section

Case Report