Background: Lipomyelomeningocele associated with ulnar club hand in the spectrum of VACTERL association is a very rare and rarely reported phenomenon. Within the fat mass of lipoma, it’s not common to find well-defined cartilaginous mass with no attachments to the surrounding tissue.
Observation: We present a 3-month-old male infant with low back swelling that is off-center to the left, accompanied by a left short forearm displaying outward bowing. Echocardiography showed an atrial septal defect. This rare VACTERL association comprises lipomyelomeningocele, atrial septal defect, and ulnar longitudinal deficiency syndrome. During surgical intervention for the lipoma, a well-defined cartilaginous mass was discovered within the adipose tissue.
Lesson: The manifestation of VACTERL association can be partially explained by the Shh/Gli and Wnt pathway defects. It’s prudent to screen children with neural tube defects to be aware of any associated syndromes. What makes this case unique and very rare is that there is no published literature on the VACTERL association of lipomyelomeningocele, atrial septal defect, and ulnar longitudinal deficiency.