Peters Plus syndrome: a recognizable clinical entity

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ÜREL DEMİR G., Lafci N., Dogan O. A., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E.

TURKISH JOURNAL OF PEDIATRICS, cilt.62, sa.1, ss.136-140, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 62 Sayı: 1
  • Basım Tarihi: 2020
  • Doi Numarası: 10.24953/turkjped.2020.01.020
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.136-140
  • Anahtar Kelimeler: Peters anomaly, Peters plus syndrome, B3GLCT, CORPUS-CALLOSUM, B3GALTL, CONFIRMATION, AGENESIS
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.