Coexistence of proboscis lateralis and multiple craniofacial, neurological, cardiac and spinal deformities: a one-of-a-kind case report

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BACKGROUND: Proboscis lateralis (PL) is an uncommon congenital facial deformity marked by the protrusion of a primitive tubular structure made up of skin and soft tissue that generally emerges from the eye's medial canthus and is associated with some craniofacial deformities. We report the first case of PL with multiple craniofacial, neurological, cardiac, and spinal anomalies. CASE PRESENTATION: A full-term female baby delivered by cesarean section cried immediately at birth. The mother reported having a normal pregnancy but has a history of x-ray during her first trimester. The baby was born with a rare presentation of proboscis lateralis which was accompanied by multiple anomalies, including but not limited to bilateral colpocephaly, corpus callosum agenesis, complex cyanotic congenital heart disease, and hemivertebra of the T10 body. CONCLUSION: PL is an uncommon congenital condition that causes a variety of craniofacial abnormalities. Multiple additional defects affecting various organ systems should also be evaluated in a person diagnosed with PL.

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