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Related Experiment Video

Updated: Jul 9, 2026

Single-stage Dynamic Reanimation of the Smile in Irreversible Facial Paralysis by Free Functional Muscle Transfer

Single-stage Dynamic Reanimation of the Smile in Irreversible Facial Paralysis by Free Functional Muscle Transfer

Published on: March 1, 2015

Urofacial syndrome.

Hamdan H Al-Hazmi¹, Ayman A Hammad, Roman Jednak

¹Division of Pediatric Urology, The Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec H3H 1P3, Canada. drhamdanhh@hotmail.com

Saudi Medical Journal

|December 7, 2007

Summary

This summary is machine-generated.

Ochoa syndrome, a rare urofacial condition, presents with distinct facial features. This report details two Middle Eastern patients, enhancing awareness and aiding diagnosis of this uncommon genetic disorder.

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Area of Science:

Genetics
Rare Diseases
Pediatric Medicine

Background:

Ochoa syndrome (urofacial syndrome) is an exceptionally rare genetic disorder.
It is characterized by a distinctive constellation of facial anomalies and urinary tract issues.

Observation:

This case report focuses on two patients of Middle Eastern descent presenting with Ochoa syndrome.
The patients' clinical presentations and diagnostic journeys are documented.

Findings:

The study reinforces the existence of Ochoa syndrome in diverse ethnic populations.
Classical facial characteristics associated with the syndrome are highlighted, aiding in early identification.

Implications:

Increased awareness of Ochoa syndrome's facial phenotype can lead to earlier diagnosis and intervention.
Further documentation contributes to understanding the spectrum and prevalence of this rare condition.