ReviewPediatric nephrology (Berlin, Germany)2004
Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated.
Review in Pediatric nephrology (Berlin, Germany), 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
34 citing papers in PubMed, 115 citations in OpenAlex.
- Neuroimaging Findings and Neurocognitive Features of Patients with Ochoa Syndrome (Urofacial Syndrome)-A Prospective Experimental Study.Diagnostics (Basel, Switzerland) · 2025Article
- Urofacial (Ochoa) syndrome with a founder pathogenic variant in the HPSE2 gene: a case report and mutation origin.Journal of applied genetics · 2025Article
- Current understanding of heparanase 2 regulation, a non-heparanase.Biochemical Society transactions · 2025Article
- Urofacial Syndrome, an Expressive and Unmasking Sign of Voiding Dysfunction: Case Report and Review of the Literature.Case reports in urology · 2025Article
- HumaneLife · 2024Article
- Neurogenic Defects Occur inKidney international reports · 2023Article
- Editorial: Novel mechanisms involved in urinary bladder control: Advances in neural, humoral and local factors underlying function and disease, volume II.Frontiers in physiology · 2022Article
- Expanding theFrontiers in genetics · 2022Article
- Urofacial syndrome: Uncommon and unforeseen cause of lower urinary tract dysfunction in children.Urology case reports · 2021Article
- Early B-cell Factor 3-Related Genetic Disease Can Mimic Urofacial Syndrome.Kidney international reports · 2020Article
- Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder.Kidney international · 2019Article
- Congenital Disorders of the Human Urinary Tract: Recent Insights From Genetic and Molecular Studies.Frontiers in pediatrics · 2019Review
- An adolescent boy progressing insidiously to end-stage renal disease: Answers.Pediatric nephrology (Berlin, Germany) · 2018Article
- Dysfunctional voiding: the importance of non-invasive urodynamics in diagnosis and treatment.Pediatric nephrology (Berlin, Germany) · 2018Review
- Novel Aspects of Renal Magnesium Homeostasis.Frontiers in pediatrics · 2018Review
- Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.BMC medical genetics · 2016Article
- Heparanase 2 expression inversely correlates with bladder carcinoma grade and stage.Oncotarget · 2016Article
- From gene discovery to new biological mechanisms: heparanases and congenital urinary bladder disease.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2016Review
- A mouse model of urofacial syndrome with dysfunctional urination.Human molecular genetics · 2015Article
- Urinary tract effects of HPSE2 mutations.Journal of the American Society of Nephrology : JASN · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
During the last 40 years over 100 patients have been reported with a dysfunctional lower urinary tract associated with a peculiar distortion of the facial expression. This most unusual disorder was initially considered a local observation. Time, however, has proven otherwise, since patients with this syndrome have now been reported from various countries throughout the world. This association of lower urinary tract and bowel dysfunction with an abnormal facial expression was named the urofacial (Ochoa) syndrome. Genetic studies have demonstrated that this condition is inherited as an autosomal recessive trait, and a potential gene has been mapped to chromosome 10q23-q24. There is also enough evidence to suggest that patients with this syndrome as well as those with subclinical neurological bladder, occult neuropathic bladder, non-neurogenic neurogenic bladder or Hinman syndrome, dysfunctional voiding, or dysfunctional elimination may be affected by the same congenital disorder of neurological origin.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.