title: 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.
authors.affiliation: Department of Pediatrics, Division of Neonatology, Yuzuncu Yil University School of Medicine, Van, Turkey demirnihat27@hotmail.com.
authors.forename: Nihat
authors.initials: N
authors.lastname: Demir
authors.affiliation: Department of Pediatrics, Division of Neonatology, Yuzuncu Yil University School of Medicine, Van, Turkey.
authors.forename: Erdal
authors.initials: E
authors.lastname: Peker
authors.affiliation: Department of Neurosurgery, Yuzuncu Yil University School of Medicine, Van, Turkey.
authors.forename: İsmail
authors.initials: İ
authors.lastname: Gülşen
authors.affiliation: Department of Pediatric Surgery, Yuzuncu Yil University School of Medicine, Van, Turkey.
authors.forename: Kemal
authors.initials: K
authors.lastname: Ağengin
authors.affiliation: Department of Pediatrics, Yuzuncu Yil University School of Medicine, Van, Turkey.
authors.forename: Sultan
authors.initials: S
authors.lastname: Kaba
authors.affiliation: Department of Pediatrics, Division of Neonatology, Yuzuncu Yil University School of Medicine, Van, Turkey.
authors.forename: Oğuz
authors.initials: O
authors.lastname: Tuncer
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000628:therapy; D001139:Arnold-Chiari Malformation / Q000150:complications* / Q000000981:diagnostic imaging / Q000601:surgery; D005260:Female; D006548:Hernia, Diaphragmatic / Q000150:complications* / Q000000981:diagnostic imaging / Q000628:therapy; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009436:Neural Tube Defects / Q000150:complications* / Q000000981:diagnostic imaging / Q000601:surgery; D014057:Tomography, X-Ray Computed
keywords: Arnold–Chiari type 2; Jarcho–Levin syndrome; neural tube defect; newborn