From pollakiuria to Donnai-Barrow syndrome diagnosis in pediatric age

Clin Genet. 2023 Dec;104(6):711-712. doi: 10.1111/cge.14417. Epub 2023 Aug 17.

Abstract

We report the case of two siblings with incomplete Donnai-Barrow syndrome (DBS) phenotype carrying three LRP2 variants never associated before with DBS phenotype.

Keywords: Donnai-Barrow syndrome; LRP2 gene variants; low-molecular-weight-proteinuria; tubular proteinuria.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Hearing Loss, Sensorineural* / genetics
  • Hernias, Diaphragmatic, Congenital* / diagnosis
  • Humans
  • Low Density Lipoprotein Receptor-Related Protein-2 / genetics
  • Myopia* / genetics
  • Proteinuria / diagnosis

Substances

  • Low Density Lipoprotein Receptor-Related Protein-2

Supplementary concepts

  • Donnai-Barrow syndrome