title: Jarcho-Levin syndrome presenting with diaphragmatic hernia.
abstract: Jarcho-Levin syndrome (spondylothoracic or spondylocostal dysostosis) is an eponym that is used to define individuals with a short neck, short trunk, and short stature and multiple vertebral anomalies. The prognosis is directly related to respiratory complications. Reported findings associated with Jarcho-Levin syndrome include congenital heart defects, abdominal wall malformations, genitourinary malformations, upper limb anomalies, and neural tube defects. We report on a 6-day-old girl who presented with an incomplete form of Jarcho-Levin syndrome with late-presenting congenital diaphragmatic hernia and congenital heart disease.
authors.affiliation: Department of Pediatrics, Section of Medical Sciences, Başkent University, Faculty of Medicine, Ankara, Turkey. ozgesur@yahoo.com
authors.forename: O S
authors.initials: OS
authors.lastname: Onay
authors.forename: S T
authors.initials: ST
authors.lastname: Kinik
authors.forename: Y
authors.initials: Y
authors.lastname: Otgün
authors.forename: I S
authors.initials: IS
authors.lastname: Arda
authors.forename: B
authors.initials: B
authors.lastname: Varan
mesh_terms: D000015:Abnormalities, Multiple; D004374:Ductus Arteriosus, Patent / Q000453:epidemiology; D005260:Female; D054092:Foramen Ovale, Patent / Q000453:epidemiology; D006548:Hernia, Diaphragmatic / Q000453:epidemiology* / Q000601:surgery; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007223:Infant; D008168:Lung / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities*; D013577:Syndrome; D014683:Vena Cava, Superior / Q000002:abnormalities