Congenital anomalies of the kidney and urinary tract (CAKUT) cover a wide range of
structural malformations that result from defects in the morphogenesis of the kidney and/or …

Usher syndrome (USH) is the most common genetic condition responsible for combined loss
of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed …

Background Branchio-oto-renal (BOR) syndrome is a dominant autosomal disorder
characterized by phenotypes such as hearing loss, branchial fistulae, preauricular pits, and …

Auricular fistula is a common congenital auricular malformation, characterized as a small
opening in the skin and a subcutaneous cyst. It can be classified in different ways according …

Retrograde transport of WLS (Wntless) from endosomes to trans-Golgi network (TGN) is
required for efficient Wnt secretion during development. However, the molecular players …

Branchio-oto-renal syndrome (BOR) is an autosomal dominant genetic disorder
characterized by branchial fistulas, hearing impairment, renal malformations and auricular …

Introduction: Branchio-oto-renal syndrome (BOR syndrome) is a rare genetic disorder with
an incidence of 1 in 40,000, affecting the development of multiple organs, including the …

Objective Establish anatomical considerations, audiological outcomes, and optimal
management in patients with branchiootic/branchiootorenal syndrome (BO/BOR). Methods …

Background Branchio‐oto‐renal (BOR) spectrum disorders are linked to pathogenic variants
in the EYA1 gene, presenting significant challenges for prenatal ultrasound screening due to …

Objectives. Branchio-oto syndrome (BOS) primarily manifests as hearing loss, preauricular
pits, and branchial defects. EYA1 is the most common pathogenic gene, and splicing …