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Related Experiment Video

Updated: Jun 12, 2026

Quantification of Orofacial Phenotypes in Xenopus

Quantification of Orofacial Phenotypes in Xenopus

Published on: November 6, 2014

Ochoa or Urofacial syndrome.

N R Sutay¹, Rajesh Kulkarni, Manish K Arya

¹Department of Pediatrics, Grant Medical College and Sir JJ Group of Hospitals, Byculla, Mumbai 400 008, India.

Indian Pediatrics

|June 4, 2010

Summary

A 10-year-old boy with bilateral hydronephrosis and a distinctive facial expression was diagnosed with Ochoa Syndrome or Urofacial Syndrome. His chronic kidney disease was managed conservatively.

Area of Science:

Pediatric Nephrology
Clinical Genetics

Background:

Bilateral hydronephrosis can indicate significant urinary tract obstruction or dysfunction.
Ochoa Syndrome (Urofacial Syndrome) is a rare genetic disorder characterized by facial anomalies and urinary tract issues.

Purpose of the Study:

To report a case of a pediatric patient with clinical features suggestive of Ochoa Syndrome.
To highlight the diagnostic considerations and conservative management of chronic renal failure in this context.

Main Methods:

Clinical case presentation.
Review of patient's medical history and physical examination findings.

Main Results:

The patient presented with bilateral hydronephrosis and a peculiar facial expression.

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Chronic renal failure was identified and managed conservatively.

Conclusions:

The clinical presentation was suggestive of Ochoa Syndrome or Urofacial Syndrome.
Conservative management strategies are crucial for pediatric patients with chronic renal failure secondary to such syndromes.