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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)

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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.

Key words

Jarcho‐Levin syndrome (JLS) - congenital diaphragmatic hernia - vertebral anomalies - spondylocostal dysostosis (SCD) - spondylothoracic dysostosis (STD)

References

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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