Peters Plus syndrome: a recognizable clinical entity


Demir G. U. , GÜLERAY LAFCI N., AKGÜN DOĞAN Ö., Kiper P. O. S. , ÜTİNE G. E.

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

  • Publication Type: Article / Article
  • Volume: 62 Issue: 1
  • Publication Date: 2020
  • Doi Number: 10.24953/turkjped.2020.01.020
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.136-140
  • Keywords: Peters anomaly, Peters plus syndrome, B3GLCT, CORPUS-CALLOSUM, B3GALTL, CONFIRMATION, AGENESIS
  • Acibadem Mehmet Ali Aydinlar University Affiliated: Yes

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.