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Vol. 20, No. 2, 2005
Issue release date: March–April 2005

Ultrasonographic Diagnosis of Jarcho-Levin Syndrome at 20 Weeks’ Gestation in a Fetus without Previous Family History

del Río Holgado M. · Martínez J.M. · Gómez O. · Casals G. · Bargalló N. · Fortuny A. · Puerto B.
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Jarcho-Levin syndrome (JLS; spondylothoracic dysplasia) is a congenital disease characterized by multiple vertebral and rib malformations, causing a short trunk dwarfism commonly leading to respiratory insufficiency and death during the first years of life. We describe a case diagnosed during the second trimester routine ultrasound scan for screening of fetal anomalies without a previous family history. The fetus had a severe disorganization of the spine and ribs, skeletal kyphosis, with several hemivertebrae and a small thorax. All of the findings at postmortem examination confirmed the ultrasound features and were consistent with the JLS. To the best of our knowledge there is only one case reported in the literature of a prenatal diagnosis of the syndrome in a family with low risk for the condition.

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  1. Ayme S, Preus M: Spondylocostal/spondylothoracic dysostosis: The clinical basis for prognosticating and genetic counseling. Am J Med Genet 1986;244:599–606.
  2. Karnes PS, Day D, Berry SA, Pierpont ME: Jarcho-Levin syndrome: Four new cases and classification of subtypes. Am J Med Genet 1991;40:264–270.
  3. 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.
  4. Martinez-Frias ML, Bermejo E, Paisan L, Martin M, Egues J, Lopez JA, Martinez S, Orbea C, Cucalon F, Gairi JM, et al: Severe spondylocostal dysostosis associated with other congenital anomalies: A clinical/epidemiologic analysis and description of ten cases from the Spanish registry. Am J Med Genet 1994;51:203–212.
  5. Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD: Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat Genet 2000;24:438–441.
  6. Tolmie JL, Whittle MJ, McNay MB, Gibson AA, Connor JM: Second trimester prenatal diagnosis of the Jarcho-Levin syndrome. Prenat Diagn 1987;7:129–134.
  7. Apuzzio JJ, Diamond N, Ganesh V, Desposito F: Difficulties in the prenatal diagnosis of Jarcho-Levin syndrome. Am J Obstet Gynecol 1987;156:916–918.
  8. Marks F, Hernanz-Schulman M, Horii S, Greenland VC, Lustig I, Snyder J, Young BK, Greco MA, Subramanyam B, Genieser NB: Spondylothoracic dysplasia. Clinical and sonographic diagnosis. J Ultrasound Med 1989;8:1–5.
  9. Lawson ME, Share J, Benacerraf B, Krauss CM: Jarcho-Levin syndrome: Prenatal diagnosis, perinatal care, and follow-up of siblings. J Perinatol 1997;17:407–409.
  10. Eliyahu S, Weiner E, Lahav D, Shalev E: Early sonographic diagnosis of Jarcho-Levin syndrome: A prospective screening program in one family. Ultrasound Obstet Gynecol 1997;9:314–318.
  11. Wong G, Levine D: Jarcho-Levin syndrome: Two consecutive pregnancies in a Puerto Rican couple. Ultrasound Obstet Gynecol 1998;12:70–73.
  12. Romero R, Ghidini A, Eswarra MS, Seashore MR, Hobbins JC: Prenatal findings in a case of spondylocostal dysplasia type I (Jarcho-Levin syndrome). Obstet Gynecol 1988;71:988–991.
  13. Lam YH, Eik-Nes SH, Tang MH, Lee CP, Nicholls JM: Prenatal sonographic features of spondylocostal dysostosis and diaphragmatic hernia in the first trimester. Ultrasound Obstet Gynecol 1999;13:213–215.
  14. Kauffmann E, Roman H, Barau G, Dumas H, Laffitte A, Fourmaintraux A, Bintner M, Randrianaivo: Case report: A prenatal case of Jarcho-Levin syndrome diagnosed during the first trimester of pregnancy. Prenatal Diagnosis 2003;23:163–165.
  15. Turnpenny PD, Bulman MP, Frayling TM, et al: A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. Am J Hum Genet 1999;65:175–182.
  16. 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;120:241–246.

    External Resources

  17. Blumenfeld Z, Siegler E, Bronshtein M: The early diagnosis of neural tube defects. Prenat Diagn 1993;13:863–871.
  18. Rottem S: IRONFAN: A sonographic window into the natural history of fetal anomalies. Ultrasound Obstet Gynecol 1995;5:361–363.
  19. Chitty LS, Pandya PP: Ultrasound screening for fetal abnormalities in the first trimester. Prenat Diag 1997;17:1269–1281.
  20. Whitlow BJ, Economides DL: The optimal gestational age to examine fetal anatomy and measure nuchal translucency in the first trimester. Ultrasound Obstet Gynecol 1998;11:258–261.
  21. Mueller GM, Weiner CP, Yankowitz J: Three-dimensional ultrasound in the evaluation of fetal head and spine anomalies. Obstet Gynecol 1996;88:372–378.
  22. Johnson DD, Pretorius DH, Riccabona M, Budorick NE, Nelson TR: Three-dimensional ultrasound of the fetal spine. Obstet Gynecol 1997;89:434–438.
  23. Hull AD, James G, Pretorius DH: Detection of Jarcho-Levin syndrome at 12 weeks’ gestation by nuchal translucency screening and three-dimensional ultrasound. Prenat Diag 2001;21:390–394.

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