Abstract
Jarcho-Levin syndrome is an eponym that represents a spectrum of short trunk skeletal dysplasias with variable involvement of the vertebrae and ribs. Initially considered to be lethal, it is now accepted as compatible with life in its milder presentations. Here are reported two neonates with the lethal variety of this syndrome. One neonate had associated anomalies like hydrocephalus, hydroureteronephrosis and meningomyelocoele while the other had no additional anomalies. Also is reviewed the literature regarding this less understood disorder focusing on the applied clinical aspects that have stemmed out from the recent molecular research.
This is a preview of subscription content, log in via an institution to check access.
References
Jarcho S, Levin PM. Hereditary malformation of the vertebral bodies.Bull Johns Hopkins Hosp 1938; 62: 216–226.
Solomon L, Jimenez RB, Reiner L. Spondylothoracic dysostosis: report of 2 cases and review of the literature.Arch Path Lab Med 1978; 102: 201–205.
Cornier AS, Ramirez N, Carlo S, Reiss A. Controversies surrounding Jarcho-Levin syndrome.Curr Opin Pediatr 2003; 15(6): 614–620.
Gellis SS, Feingold M. Spondylothoracic dysplasia (costovertebral dysplasia, Jarcho-Levin syndrome).Am J Dis Child 1976; 130: 513–514.
Pochaczevsky R, Ratner H, Perles D, Kassner G, Naysan P. Spondylothoracic dysplasia.Radiology 1971; 98(1): 53–58.
Pamela SK, Deborah D, Susan AB, Mary EMP. Jarcho-Levin syndrome: four new cases and classification of subtypes.Am J Med Genet 1991; 40: 264–270.
Murr MM, Waziri MH, Schelper RL, Abu-Youself M. Case of multivertebral anomalies, cloacal dysgenesis, and other anomalies presenting prenatally as cystic kidneys.Am J Med Genet 1992; 42(6): 761–765.
Adegboyega PA, Adesokan AA, Sample TG, Nichols MM. Pathological case of the month. Spondylothoracic dysplasia with multiple congenital cardiac anomalies.Arch Pediatr Adolesc Med 1996; 150(2): 221–222.
Giacoia GP, Say B. Spondylocostal dysplasia and neural tube defects.J Med Genet 1991; 28: 51–53.
Cornier AS, Ramirez N, Arroyo S, Acevedo J, Garcia L, Carlo Set al. Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: a series of 27 new cases.Am J Med Genet 2004; 128A: 120–126.
Turnpenny PD, Bulman MP, Frayling TM, Abu-Nasra TK, Garrett C, Hattersley ATet al. A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1–q13.3.Am J Hum Genet 1999; 65: 175–182.
Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ESet al. Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.Nature Genet 2000; 24: 438–441.
Bannykh SI, Emery SC, Gerber JK, Jones KL, Benirschke K, Masliah E. Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review.Am J Med Genet 2003; 120A: 241–246.
Whittock NV, Sparrow DB, Wouters MA, Sillence D, Ellard S, Dunwoodie SLet al. Mutated MESP2 causes spondylocostal dysostosis in humans.Am J Hum Genet 2004; 74: 1249–1254.
Marks F, Hernanz-Schulman M, Horii S, Greenland VC, Lustig I, Snyder Jet al. Spondylothoracic dysplasia. Clinical and sonographic diagnosis.J Ultrasound Med 1989; 8(1): 1–5.
Mortier GR, Lachman RS, Bocian M, Rimoin DL. Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature.Am J Med Genet 1996; 61: 310–319.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Kulkarni, M.L., Sarfaraz Navaz, R., Vani, H.N. et al. Jarcho-Levin syndrome. Indian J Pediatr 73, 245–247 (2006). https://doi.org/10.1007/BF02825493
Issue Date:
DOI: https://doi.org/10.1007/BF02825493