Thangamadhan Bosemani1, Andrea Poretti, Jane E Benson, Andreas Meyer-Heim, Thierry A G M Huisman. 1. Section of Pediatric Neuroradiology, Division of Pediatric Radiology, The Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Charlotte R. Bloomberg Children's Center, Sheikh Zayed Tower, Room 4174, 1800 Orleans Street, Baltimore, MD, 21287-0842, USA, tbosema1@jhmi.edu.
Abstract
UNLABELLED: Congenital or early onset scoliosis may be the lead clinical feature in several rare syndromes. In this paper, we present the imaging findings in two children with early onset scoliosis related to the Jarcho-Levin and Escobar syndromes and an osseous plate or wing-like bar extending along the posterior elements of the spine on computed tomography. The clinical phenotypes in these syndromes are variable. A thorough clinical evaluation with imaging correlation is essential. The recognition of underlying spinal anomalies is essential in planning treatment and estimating prognosis. In young children with progressive scoliosis, cross-sectional imaging plays a major role in the diagnostic work-up. CONCLUSION: Congenital scoliosis requires a comprehensive clinical evaluation and imaging work-up. The presence of an osseous plate or wing-like fusion of posterior elements of the spine may suggest the diagnosis of Jarcho-Levin and Escobar syndromes.
UNLABELLED: Congenital or early onset scoliosis may be the lead clinical feature in several rare syndromes. In this paper, we present the imaging findings in two children with early onset scoliosis related to the Jarcho-Levin and Escobar syndromes and an osseous plate or wing-like bar extending along the posterior elements of the spine on computed tomography. The clinical phenotypes in these syndromes are variable. A thorough clinical evaluation with imaging correlation is essential. The recognition of underlying spinal anomalies is essential in planning treatment and estimating prognosis. In young children with progressive scoliosis, cross-sectional imaging plays a major role in the diagnostic work-up. CONCLUSION:Congenital scoliosis requires a comprehensive clinical evaluation and imaging work-up. The presence of an osseous plate or wing-like fusion of posterior elements of the spine may suggest the diagnosis of Jarcho-Levin and Escobar syndromes.
Authors: Neil V Morgan; Louise A Brueton; Phillip Cox; Marie T Greally; John Tolmie; Shanaz Pasha; Irene A Aligianis; Hans van Bokhoven; Tamas Marton; Lihadh Al-Gazali; Jenny E V Morton; Christine Oley; Colin A Johnson; Richard C Trembath; Han G Brunner; Eamonn R Maher Journal: Am J Hum Genet Date: 2006-06-20 Impact factor: 11.025
Authors: Walter E Berdon; Brooke S Lampl; Alberto S Cornier; Norman Ramirez; Peter D Turnpenny; Michael G Vitale; Leonard P Seimon; Robert A Cowles Journal: Pediatr Radiol Date: 2010-12-22
Authors: Stuart L Weinstein; Lori A Dolan; Kevin F Spratt; Kirk K Peterson; Mark J Spoonamore; Ignacio V Ponseti Journal: JAMA Date: 2003-02-05 Impact factor: 56.272