Spondylothoracic Dysostosis in Puerto Rico



Puerto Rico is the smallest of the four Greater Antilles islands, which also includes Cuba, Hispaniola, and Jamaica, localized in the Caribbean Sea. Puerto Rico was discovered in 1493 by Christopher Columbus and became a Spanish territory until the Spanish–American War of 1898, when it became a US territory. The particular history of our country provides us with a specific social, cultural, and ethnic situation. We are the only Latin-American country whose people have US citizenship. The two official languages of Puerto Rico are Spanish and English. The island population is 3.9 million (U.S. Census Bureau 2000, www.census.gov) and taking into consideration that the island is only 35 miles wide and 100 miles long, this makes us a densely populated country with 1,115.8 people per square mile.


Congenital Scoliosis Sort Intolerant From Tolerant bHLH Domain Early Onset Scoliosis Segmentation Defect 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



I would like to acknowledge the dozens of patients with STD and their families for all their help and collaboration in establishing the natural history of this disease as well as determining the molecular etiology. They have become part of my extended family and I feel privileged for their “cariño y respeto.” “Yo también los quiero mucho.”

I would also like to acknowledge ICVAS, the International Consortium of Vertebral Abnormalities and Scoliosis, as well as my collaborators Dr. Norman Ramirez, Dr. Jose Acevedo, Dr. Simon Carlo, Dr. Jesse Romeu, Dr. Jhon Flynn, Dr. Sandra Arroyo, Dr. Hostos Fernandez, Lcda. Ivette Ramos, and Lcda. Velma Franceschini for their support and collaboration in the research of STD throughout the years.

Finally, I would like to express my depth of appreciation to the editors of this fantastic book, Drs. Kenro Kusumi and Sally Dunwoodie, for inviting me to share with you the history, research, and personal experience on spondylothoracic dysostosis syndrome.

To all of you “gracias mil.”


  1. Acevedo, J.R. 2009. Coping Patterns and Mood States in Puerto Rican Parents of Children with a Genetic Disorder. Unpublished Thesis. Case Western Reserve University, Cleveland, Ohio.Google Scholar
  2. Ayme, S. and Preus, M. 1986 Spondylocostal/spondylothoracic dysostosis: the clinical basis for prognosticating and genetic counseling. Am. J. Med. Genet. 24:599–606.CrossRefPubMedGoogle Scholar
  3. Cantu, J.M., Urrusti, J., Rosales, G., and Rojas, A. 1971. Evidence for autosomal recessive inheritance of costovertebral dysplasia. Clin. Genet. 2:149–154.CrossRefPubMedGoogle Scholar
  4. Casamassima, A.C., Casson-Morton, C., Nance, W.E., Kodroff, M., Caldwell, R., Kelly, T., and Wolf, B. 1981. Spondylocostal dysostosis associated with anal and urogential anomalies in a Mennonite sibship. Am. J. Med. Genet. 8:117–127.CrossRefPubMedGoogle Scholar
  5. Cornier, A.S., Ramirez, N., Arroyo, S., Acevedo, J., Garcia, L., Carlo, S., and Korf, B. 2004. Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: a series of 27 new cases. Am. J. Med. Genet. 128:120–126.CrossRefGoogle Scholar
  6. Cornier, A.S., Staehling-Hamptom, K., Delventhal, K.M., Saga, Y.,Caubet, J.F., Sasaki, N., Ellard, S., Young, E., Ramirez, N., Carlo, S., Torres, J., Emans, J.B., Turnpenny, P.D., and Pourquié, O. 2008. Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. Am. J. Hum. Genet. 82(6):1334–1341.CrossRefPubMedGoogle Scholar
  7. Dimeglio, A. 1993. Growth of the spine before 5 years. J. Pediatr. Orthop. B 1:102–107.Google Scholar
  8. Dimeglio A. 2005. Growth in pediatric orthopaedics. In Lovell and Winter’s Pediatric Orthopaedics, 6th Ed. eds. T. Morrissy, and Weinstein, S.L., pp. 35–65. Philadelphia, PA: Lippincott Williams and Wilkins.Google Scholar
  9. Dimeglio. A., Bonnel. F., Le rachis en croissance. Paris: Springer; 1990.Google Scholar
  10. Floor, E., De Jong, R.O., Fryns, J.P., Smulders, C., and Vles, J.S.H. 1989. Spondylocostal dysostosis: an example of autosomal dominant transmission in a large family. Clin. Genet. 36:236–241.CrossRefPubMedGoogle Scholar
  11. Franceschini, P., Grassi, E., Fabris, C., Bogetti, G., and Randaccio, M. 1974. The autosomal recessive form of spondylocostal dysostosis. Pediatr. Rad. 112:673–676.Google Scholar
  12. Gellis, S.S., Feingold, M., and Pashayan, H.M. 1976. Picture of the month: the EEC syndrome. Am. J. Dis. Child. 130:653–654.PubMedGoogle Scholar
  13. Herold, H.Z., Edlitz, M., and Baruchin, A. 1988. Spondylothoracic dysplasia: a report of ten cases with follow-up. Spine 13:478–481.CrossRefPubMedGoogle Scholar
  14. Jarcho, S. and Levin, P. 1938. Hereditary malformation of the vertebral bodies. Bull. Johns Hopkins Hosp. 62:216–226.Google Scholar
  15. Lavy, N.W., Palmer, C.G., and Merritt, A.D. 1966. A syndrome of bizarre vertebral anomalies. J. Pediatr. 69:1121–1125.CrossRefPubMedGoogle Scholar
  16. McCall, C.P., Hudgins, L., Cloutier, M., Greenstein, R.M., and Cassidy, S.B. 1994. Jarcho-Levin syndrome: unusual survival in a classical case. Am. J. Med. Genet. 49:328–332.CrossRefPubMedGoogle Scholar
  17. Martínez-Cruzado, J.C., Toro-Labrador, G., Viera-Vera, J., Rivera-Vega, M.Y., Startek, J., Latorre-Esteves, M., Román-Colón, A., Rivera-Torres, R., Navarro-Millán, I.Y., Gómez-Sánchez, E., Caro-González, H.Y., and Valencia-Rivera, P. 2005. Reconstructing the population history of Puerto Rico by means of mtDNA phylogeographic analysis. Am. J. Phys. Anthropol. 128(1):131–155.CrossRefPubMedGoogle Scholar
  18. Morimoto, M., Takahashi, Y., Endo, M., and Saga, Y. 2005. The Mesp2 transcription factor establishes segmental borders by suppressing Notch activity. Nature 435:354–359.CrossRefPubMedGoogle Scholar
  19. Moseley, J.E. and Bonforte, R.J. 1969. Spondylothoracic dysplasia: a syndrome of congenital anomalies. Am. J. Roentgen. 106:166–169.PubMedGoogle Scholar
  20. Ng, P.C. and Henikoff, S. 2001. Predicting deleterious amino acid substitutions. Genome Res. 11:863–874.CrossRefPubMedGoogle Scholar
  21. Pochaczevsky, R., Ratner, H., Perles, D., Kassner, G., and Naysan, P. 1971. Spondylothoracic dysplasia. Radiology 98:53–58.PubMedGoogle Scholar
  22. Ramirez, N., Flynn, J.M., Serrano, J.A., Carlo, S., and Cornier, A.S. 2009. The Vertical Expandable Prosthetic Titanium Rib in the treatment of spinal deformity due to progressive early onset scoliosis. J. Pediatr. Orthop. B 18(4):197–203.PubMedGoogle Scholar
  23. Rimoin, D.L., Fletcher, B.D., and McKusick, V.A. 1968. Spondylocostal dysplasia: a dominantly inherited form of short trunk dwarfism. Am. J. Med. Genet. 45:948–953.Google Scholar
  24. Saga, Y., Hata, N., Koseki, H., and Taketo, M.M. 1997. Mesp2: a novel mouse gene expressed in the presegmented mesoderm and essential for segmentation initiation. Genes Dev. 11:1827–1839.CrossRefPubMedGoogle Scholar
  25. Schulman, M., Gonzalez, M.T., and Bye, M.R. 1993. Airway abnormalities in Jarcho-Levin syndrome: a report of two cases. J. Med. Genet. 30:875–876.CrossRefPubMedGoogle Scholar
  26. Solomon, L., Bosh-Jimenes, R., and Reiner, L. 1978. Spondylothoracic dysostosis. Arch. Pathol. Lab. Med. 102:201–205PubMedGoogle Scholar
  27. Tolmie, J.L., Whittle, M.J., McNay, M.B., Gibson, A.A., and Connor, J.M. 1987. Second trimester prenatal diagnosis of the Jarcho-Levin syndrome. Prenat. Diagn. 7:129–134.CrossRefPubMedGoogle Scholar
  28. Turnpenny, P.D., Alman, B., Cornier, A.S., Giampietro, P.F., Offiah, A., Tassy, O., Pourquie, O., Kusumi, K., and Dunwoodie, S. 2007. Abnormal vertebral segmentation and the notch signaling pathway in man. Dev. Dyn. 236:1456–1474.CrossRefPubMedGoogle Scholar
  29. Whittock, N.V., Sparrow, D.B., Wouters, M.A., Sillence, D., Ellard, S., Dunwoodie, S.L., and Turnpenny, P.D. 2004. Mutated MESP2 causes spondylocostal dysostosis in humans. Am. J. Hum. Genet. 74:1249–1254.CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  1. 1.Department of Molecular Medicine, Hospital de la ConcepciónSan GermánPuerto Rico
  2. 2.Ponce School of MedicinePoncePuerto Rico

Personalised recommendations