A very rare syndrome and its rare urological complication: Incomplet bladder duplication in Robinow syndrome

Arch Esp Urol. 2022 May 28;75(4):379-381. doi: 10.56434/j.arch.esp.urol.20227504.55.

Abstract

Objectives: Robinow syndrome is a very rare syndrome characterized by short stature, extremity deformities, costovertebral abnormalities, renal/external genital malformations, and fetal facial appearance. It might be inherited by either autosomal dominant or severe recessive form. Diagnosis is generally established by the aid of genetic mutation and phenotypic findings. The urogenital component of the disease frequently presents with microgenitalia such as micropenis and/or cryptorchidism.

Methods: Herein, a four-year-old boy with Robinow syndrome accompanied by incomplete bladder duplication is discussed.

Results: The duplication in the bladder was screened by cystoscopy and corrective surgery was performed.

Conclusions: This rare manifestation is the first for urological findings of Robinow syndrome in literature.

Keywords: Bladder duplication; Robinow syndrome; incomplete duplication.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Craniofacial Abnormalities* / complications
  • Craniofacial Abnormalities* / diagnosis
  • Craniofacial Abnormalities* / genetics
  • Dwarfism* / complications
  • Dwarfism* / diagnosis
  • Dwarfism* / genetics
  • Humans
  • Kidney / abnormalities
  • Limb Deformities, Congenital* / diagnosis
  • Limb Deformities, Congenital* / genetics
  • Male
  • Syndrome
  • Urinary Bladder
  • Urogenital Abnormalities

Supplementary concepts

  • Renal Adysplasia
  • Robinow Syndrome