A rare case report of Goldberg-Shprintzen syndrome

Abstract

Goldberg-Shprintzen syndrome is an autosomal dominant disorder caused by mutations in the KIFBP gene, which encodes the kinesin family binding protein. This protein is essential for cytoskeleton formation and neurite growth, interacting with microtubules and actin filaments. Initially, the patient was suspected to have meconium ileus with intestinal obstruction or cystic fibrosis, but further investigations revealed Goldberg-Shprintzen syndrome. To date, fewer than 50 cases have been reported in the medical literature. This case review aims to increase awareness of this rare connective tissue disorder, which remains underdiagnosed due to the scarcity of documented cases and some overlap with other syndromes.