Eur J Pediatr Surg 2008; 18(4): 272-274
DOI: 10.1055/s-2008-1038364
Case Report

© Georg Thieme Verlag KG Stuttgart · New York

Jarcho-Levin Syndrome Presenting with Diaphragmatic Hernia

O. S. Onay1 , S. T. Kınık2 , Y. Ötgün3 , I. S. Arda3 , B. Varan4
  • 1Department of Pediatrics, Section of Medical Sciences, Başkent University, Faculty of Medicine, Ankara, Turkey
  • 2Division of Pediatric Endocrinology, Department of Pediatrics, Section of Medical Sciences, Başkent University, Faculty of Medicine, Ankara, Turkey
  • 3Department of Pediatric Surgery, Section of Surgical Sciences, Başkent University, Faculty of Medicine, Ankara, Turkey
  • 4Division of Pediatric Cardiology, Department of Pediatrics, Section of Medical Sciences, Başkent University, Faculty of Medicine, Ankara, Turkey
Further Information

Publication History

received October 4, 2007

accepted after revision December 19, 2007

Publication Date:
15 July 2008 (online)

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.

References

  • 1 Cornier A S, Ramirez N, Carlo S, Reiss A. Controversies surrounding Jarcho-Levin syndrome.  Curr Opin Pediatr. 2003;  15 614-620
  • 2 Duru S, Ceylan S, Guvenc B H. Segmental costovertebral malformations: association with neural tube defects. Report of 3 cases and review of the literature.  Pediatr Neurosurg. 1999;  30 272-277
  • 3 Hayek S, Burke S W, Boachie-Adjei O, Bisson L J. Jarcho-Levin syndrome: report on a long-term follow-up of an untreated patient.  J Pediatr Orthop B. 1999;  8 150-153
  • 4 Jarcho S, Levin P. Hereditary malformation of the vertebral bodies.  Bull John Hopkins Hosp. 1938;  62 216-226
  • 5 Keles S, Artac H, Elmaci M, Reisli I, Dilsiz A. Late-presenting congenital diaphragmatic hernia associated with ectopic thoracic kidney.  Eur J Pediatr. 2006;  165 571-572
  • 6 Lavy N W, Palmer N CG, Merritt A D. A syndrome of bizarre vertebral anomalies.  J Pediatr. 1966;  69 1121-1125
  • 7 Lawson M E, Share J, Benacerraf B, Krauss C M. Jarcho-Levin syndrome: prenatal diagnosis, perinatal care, and follow-up of siblings.  J Perinatol. 1997;  17 407-409
  • 8 Shehata S MK, El-Banna I A, Gaber A A, El-Samongy A M. Spondylothoracic dysplasia with diaphragmatic defect: a case report with literature review.  Eur J Pediatr Surg. 2000;  10 337-339

Dr. Ozge Surmeli Onay

Section of Medical Sciences
Department of Pediatrics
Başkent University
Faculty of Medicine

6. cadde 72/3 Bahcelievler

06490 Ankara

Turkey

Email: ozgesur@yahoo.com

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