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Related Experiment Videos

Acro-pectoro-renal field defect with contralateral ureteropelvic junction obstruction

H R Hegde1, A K Leung, W L Robson

  • 1Department of Pediatrics, University of Calgary, Alberta, Canada.

Clinical Genetics
|April 1, 1995
PubMed
Summary

A rare association between ureteropelvic junction obstruction and acro-pectoro-renal field defect was observed in an infant. This finding suggests urinary tract ultrasounds for children with pectoralis major muscle aplasia.

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Editor's Mail.

Postgraduate medicine·2016

Area of Science:

  • Pediatric Urology
  • Medical Genetics
  • Developmental Biology

Background:

  • Ureteropelvic junction obstruction (UPOJ) is a common congenital anomaly affecting the urinary tract.
  • Acro-pectoro-renal (APR) field defect is a rare genetic disorder characterized by abnormalities in the limbs, chest, and kidneys.
  • The co-occurrence of these conditions has not been previously documented.

Observation:

  • A newborn male infant presented with a confirmed diagnosis of ureteropelvic junction obstruction.
  • The infant also exhibited features consistent with the acro-pectoro-renal field defect.
  • This specific combination of congenital anomalies represents a novel clinical observation.

Findings:

  • The study identified a previously unreported association between ureteropelvic junction obstruction and acro-pectoro-renal field defect.

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  • This case highlights a potential link between genetic factors influencing limb and chest development and urinary tract anomalies.
  • The findings suggest a possible shared developmental pathway or genetic etiology.

    • Implications:

    • The observation warrants further investigation into the genetic and developmental underpinnings of this association.
    • Clinicians should consider the possibility of urinary tract abnormalities, such as UPJO, in infants diagnosed with acro-pectoro-renal field defect.
    • Routine ultrasonography of the urinary tract is recommended for all children diagnosed with pectoralis major muscle aplasia to detect potential UPJO.