This baby had four out of the six congenital malformations consistent with VACTERL association. Most clinicians and researches require the presence of at least three component features for diagnosis. Limb malformations, classically defined in VACTERL association as radial anomalies, including thumb aplasia/hypoplasia, have been reported in approximately 40-50% of cases. It is important to perform a thorough physical exam on baby's with limb anomalies, examining each organ system, to rule out similar disorders in the differential diagnosis.
This case was submitted with supervision and input from:
Soni C. Chawla, M.D.
Department of Radiological Sciences
David Geffen School of Medicine at UCLA
Olive View - UCLA Medical Center