A Single-Center Experience of CNS Anomalies or Neural Tube Defects in Patients With Jarcho–Levin Syndrome

Abstract

Jarcho–Levin syndrome (JLS) is a genetic disorder characterized by distinct malformations of the ribs and vertebrae, and/or other associated abnormalities such as neural tube defect, Arnold–Chiari malformation, renal and urinary abnormalities, hydrocephalus, congenital cardiac abnormalities, and extremity malformations. The study included 12 cases at 37-42 weeks of gestation and diagnosed to have had Jarcho–Levin syndrome, Arnold–Chiari malformation, and meningmyelocele. All cases of Jarcho–Levin syndrome had Arnold–Chiari type 2 malformation; there was corpus callosum dysgenesis in 6, lumbosacral meningmyelocele in 6, lumbal meningmyelocele in 3, thoracal meningmyelocele in 3, and holoprosencephaly in 1 of the cases. With this article, the authors underline the neurologic abnormalities accompanying Jarcho–Levin syndrome and that each of these abnormalities is a component of Jarcho–Levin syndrome.