title: The urofacial (Ochoa) syndrome--first case in the central European population.
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.
authors.affiliation: Department of Paediatrics, Faculty of Medicine and Teaching Hospital Hradec Králové, Czech Republic. skalova.s@seznam.cz
authors.forename: S
authors.initials: S
authors.lastname: Skálová
authors.forename: I
authors.initials: I
authors.lastname: Rejtar
authors.forename: I
authors.initials: I
authors.lastname: Novák
authors.forename: V
authors.initials: V
authors.lastname: Jüttnerová
mesh_terms: D019066:Facies; D005260:Female; D006801:Humans; D012904:Smiling; D013577:Syndrome; D001750:Urinary Bladder, Neurogenic; D014551:Urinary Tract / Q000002:abnormalities*; D014570:Urologic Diseases