VATER--tibia aplasia association: report on two patients

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.
• 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.