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VATER--tibia aplasia association: report on two patients.

Liesbeth Spruijt1, Koen Devriendt, Jos Offermans

  • 1Departments of Clinical Genetics, University Hospital Leuven, Leuven, Belgium.

Clinical Dysmorphology
|October 29, 2002
PubMed
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This study describes two rare cases of infants with esophageal atresia, tracheoesophageal fistula, and unilateral tibial aplasia. These findings suggest an unusual presentation of VATER (Vertebral, Anal, Tracheo-esophageal, Renal, Limb) association.

Area of Science:

  • Pediatric Genetics
  • Clinical Dysmorphology
  • Congenital Abnormalities

Background:

  • Esophageal atresia and tracheoesophageal fistula are rare congenital anomalies.
  • Tibial aplasia is a limb defect that can occur in isolation or as part of a syndrome.
  • VATER (Vertebral, Anal, Tracheo-esophageal, Renal, Limb) association is a complex of congenital malformations.

Observation:

  • Two sporadic cases of infants presenting with esophageal atresia, tracheoesophageal fistula, and unilateral tibial aplasia were identified.
  • Both patients exhibited normal karyotypes.
  • The clinical presentation was consistent with an uncommon variant of VATER association.

Findings:

  • The co-occurrence of esophageal atresia, tracheoesophageal fistula, and unilateral tibial aplasia in these patients is a rare congenital defect pattern.

Related Experiment Videos

  • The absence of chromosomal abnormalities suggests a non-syndromic or sporadic occurrence.
  • This presentation aligns with previously reported cases of VATER-tibia aplasia association.

    • Implications:

    • These cases expand the known spectrum of VATER association and its variants.
    • Recognition of this specific combination of anomalies is crucial for accurate diagnosis and genetic counseling.
    • Further research into the etiology of such rare congenital defect combinations is warranted.