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Related Experiment Videos

Urofacial (ochoa) syndrome.

B Ochoa, R J Gorlin

    American Journal of Medical Genetics
    |July 1, 1987
    PubMed
    Summary
    This summary is machine-generated.

    Children with inverted facial expressions during laughter may have urofacial syndrome, a condition causing bladder and bowel issues. Early urological evaluation is recommended for affected individuals.

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    Area of Science:

    • Pediatric Urology
    • Genetics
    • Neurology

    Background:

    • Enuresis and urinary tract infections (UTIs) are common pediatric conditions.
    • Facial expression anomalies during laughter are rarely documented in association with urological issues.

    Observation:

    • A study observed 36 children with enuresis and UTIs exhibiting "inversion" of facial expression during laughter.
    • These children presented with characteristic findings of mild neuropathic bladder.
    • Severe urinary tract damage was noted in a majority of the cases, alongside moderate to severe constipation in about two-thirds.

    Findings:

    • A distinct association was found between distorted facial expression during laughter and neuropathic bladder.
    • The condition, termed urofacial syndrome, involves genitourinary tract damage.

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  • Evidence suggests an autosomal recessive inheritance pattern, indicated by familial occurrence, normal parents, and increased consanguinity.

    • Implications:

    • Urological evaluation should be considered for individuals presenting with "inversion" of facial expression during laughter.
    • Recognition of urofacial syndrome can lead to earlier diagnosis and management of associated bladder and bowel dysfunction.
    • Understanding the genetic basis aids in genetic counseling for affected families.