Peters Plus syndrome: a recognizable clinical entity


Creative Commons License

Demir G. U. , Lafci N. G. , Dogan Ö. , Kiper P. O. S. , ÜTİNE G. E.

TURKISH JOURNAL OF PEDIATRICS, vol.62, no.1, pp.136-140, 2020 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 62 Issue: 1
  • Publication Date: 2020
  • Doi Number: 10.24953/turkjped.2020.01.020
  • Title of Journal : TURKISH JOURNAL OF PEDIATRICS
  • Page Numbers: pp.136-140

Abstract

Peters plus syndrome is a rare genetic condition wherein multiple systemic involvement with distinctive facial features are manifested, whilst the hallmark is Peters anomaly, occuring from anterior segment dysgenesis. Homozygous variants in the B3GLCT gene were identified to underlie this disorder. We here report on a one-month-old female patient with typical features characteristic of Peters plus syndrome in whom a homozygous pathogenic mutation in the B3GLCT gene was detected.