Related Experiment Video
Updated: Aug 8, 2026

Quantification of Orofacial Phenotypes in Xenopus
Published on: November 6, 2014
The urofacial (Ochoa) syndrome--first case in the central European population
1Department of Paediatrics, Faculty of Medicine and Teaching Hospital Hradec Králové, Czech Republic. skalova.s@seznam.cz
Abstract:
The urofacial (Ochoa) syndrome (UFS) is a very rare autosomal recessive disorder characterized by abnormal facial expression and urinary abnormalities. Patients with this syndrome have urinary tract infection, hydronephrosis, hydroureter and voiding dysfunctions resulting from neurogenic bladder, together with a peculiar inverted facial expression, mainly when smiling or crying. This syndrome has been so far observed in Colombia, USA, France and Spain. We report the first case of Ochoa syndrome in the central European population.
More Related Videos
10:23Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
Published on: September 8, 2023
08:03Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
Published on: November 4, 2025
Related Concept Videos
Prosopagnosia
Sex-linked Disorders
Sex Linked Disorders
Prevalence and Incidence
Prevalence indicates the proportion of individuals in a population who have a specific disease or health condition at a...
X-linked Traits
X-linked Traits