Introduction: Jarcho-Levin syndrome is a genetic skeletal disorder characterized by short-trunk dwarfism with vertebral and rib anomalies. The association with other organs such as the spinal, brain, and the urinary system has been reported. The paper reports a rare case of Jarcho-Levin syndrome associated with neural tube defects and other congenital malformations.
Case presentation: The patient came with neglected myelomeningocele and severe hydrocephalus. Type 3 growing skull fracture complicated the management of this syndrome. This paper describes the management of JLS associated with neural tube defects as well as the severe hydrocephalus and the growing skull fracture.
Conclusion: The paper reports a rare case of Jarcho-Levin syndrome associated with neural tube defects and other congenital malformations. The treatment should be carefully tailored.
Â Keywords: Growing skull fracture, hydrocephalus, Jarcho-Levin syndrome, myelomeningocele, spondylocostal dysostosis