Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: A series of 27 new cases

American Journal of Medical Genetics

Volumn 128 A, Issue 2, 2004, Pages 120-126

  Cornier, A S ^a   Ramirez N ^b   Arroyo, S ^b   Acevedo, J ^c   Garcia L ^d   Carlo, S ^a   Korf, B ^e  

^a PONCE SCHOOL OF MEDICINE   (Puerto Rico)

^b Mayaguez Medical Center   (Puerto Rico)

^c University of Puerto Rico Arecibo   (Puerto Rico)

^d UNIVERSITY OF PUERTO RICO   (Puerto Rico)

^e UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

Author keywords

Jarcho Levin syndrome; Natural history; Spondylothoracic dysplasia

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; DISEASE COURSE; FEMALE; HUMAN; IMAGE RECONSTRUCTION; INFANT; JARCHO LEVIN SYNDROME; LETHALITY; LUNG COMPLIANCE; LUNG DISEASE; LUNG FUNCTION TEST; MALE; MORTALITY; PEDIGREE ANALYSIS; PHENOTYPE; PHYSICAL EXAMINATION; PNEUMONIA; PRIORITY JOURNAL; PUERTO RICO; RESPIRATORY FAILURE; RESTRICTIVE LUNG DISEASE; SPINE RADIOGRAPHY; THORAX MALFORMATION; VERTEBRA MALFORMATION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; HUMANS; INFANT; MALE; MIDDLE AGED; MUSCULOSKELETAL ABNORMALITIES; PEDIGREE; PHENOTYPE; PROSPECTIVE STUDIES; PUERTO RICO; RADIOGRAPHY, THORACIC; RIBS; SPINE; SYNDROME; THORAX; TIME FACTORS; TOMOGRAPHY, X-RAY COMPUTED;

DECAPODA (CRUSTACEA);

EID: 4444283260     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30011     Document Type: Article

References (36)

1. Acevedo J, Ramirez N, Cornier AS. 2002. Assessing coping strategies in families with Jarcho-Levin Syndrome. Am J Human Gen 71-S(4):346.
2. Apuzzio JJ, Diamond N, Ganesh V, Desposito F. 1987. Difficulties in the prenatal diagnosis of Jarcho-Levin syndrome. Am J Obstet Gynecol 156:916-918.
3. Aymé S, Preus M. 1986. Spondylocostal/spondylothoracic dysostosis: The clinical basis for prognosticating and genetic counseling. Am J Med Genet 24:599-606.
4. Beighton P, Horan PT. 1981. Spondylocostal dysostosis in South African sisters. Clin Gen 19:23-25.
5. Bulman MP, Kusumi K, Frayling TM, McKeon C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD. 2000. Mutations in the human delta homolgue, DLL3, cause axial skeletal defect in spondylocostal dysostosis. Nat Genet 24:438-441.
6. Cantú JM, Urrusti J, Rosales G, Rojas A. 1971. Evidence for autosomal recessive inheritance of costovertebral dysplasia. Clin Genet 2:149-154.
7. Casamassima AC, Casson-Morton C, Nance WE, Kodroff M, Caldwell R, Kelly T, Wolf B. 1981. Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship. Am J Med Genet 8: 117-127.
8. Feingold M, Bossert W. 1974. Normal values for selected physical parameters: An aid to syndrome delineation. Birth defects: Original Article Series. Natl Found March Dimes 10(13):1-16.
9. Floor E, De Jong RO, Fryns JP, Smulders C, Vles JSH. 1989. Spondylocostal dysostosis: An example of autosomal dominant transmission in a large family. Clin Genet 36:236-241.
10. Franceschini P, Grassi E, Fabris C, Bogetti G, Randaccio M. 1974. The autosomal recessive form of spondylocostal dysostosis. Pediatr Rad 112: 673-676.
11. Giacoia GP, Say B. 1991. Spondylocostal dysplasia and neural tube defects. J Med Genet 28:51-53.
12. Heilbronner DM, Charlottesville V, Renshaw TS. 1984. Spondylothoracic dysplasia. J Bone Joint Surg 66-A:302-303.
13. Herold HZ, Edlitz M, Baruchin A. 1988. Spondylothoracic dysplasia: A report of ten cases with follow-up. Spine 13:478-481.
14. Jarcho S, Levin P. 1938. Hereditary malformation of the vertebral bodies. Bull John Hopkins Hosp 62:216-226.
15. Karnes PS, Day D, Berry SA, Pierpont MEM. 1991. Jarcho-Levin syndrome: Four new cases and classification of subtypes. Am J Med Genet 40:264-270.
16. Lavy NW, Palmer CG, Merritt AD. 1966. A syndrome of bizarre vertebral anomalies. J Pediatr 69:1121-1125.
17. Martínez-Frías ML, Urioste M. 1994. Segmentation anomalies of the vertebras and ribs: A developmental field defect: Epidemiologic evidence. Am J Med Gen 49:36-44.
18. McCall CP, Hudgins L, Cloutier M, Greenstein RM, Cassidy SB. 1994. Jarcho-Levin syndrome: Unusual survival in a classical case. Am J Med Gen 49:328-332.
19. McCubbin HI, McCubbin MA, Nevin, Cauble. 1983. Coping health inventory for parents. In: McCubbin HI, Thompson AI, McCubbin MA, editors. Family assessment: Resiliency, coping, and adaptation. (1st ed). Madison, WI: University of Wisconsin.
20. McCubbin HI, Thompson AI, McCubbin MA. 1996. Family assessment: Resiliency, coping and adaptation-inventories for research and practice. (1st ed). Madison, WI: University of Wisconsin. p 407-454.
21. Mooney JF, Emans JB. 1995. Progressive kyphosis and neurologic compromise complicating spondylothoracie dysplasia in infancy (Jarcho-Levin Syndrome). Spine 20:1938-1942.
22. Mortier GR, Lachman RS, Bocian M, Rimoin DL. 1996. Multiple vertebral segmentation defects: Analysis of 26 new patients and review of the literature. Am J Med Gen 61:310-319.
23. Moseley JE, Bonforte RJ. 1969. Spondylathoracic dysplasia: A syndrome of congenital anomalies. Am J Roentgen 106:166-169.
24. Pascual-Castroviejo I, Rodríguez-Costa T, Castillo F. 1973. Spondylothoracic dysplasia in three sisters. Develop Med Child Neurol 15:348-354.
25. Pochaczevsky R, Ratner H, Perles D, Kassner G, Naysan P. 1971. Spondylothoracic dysplasia. Radiology 98:53-58.
26. Poor MA, Alberti O, Thorne-Griscom N, Driscoll SG, Holmes LB. 1983. Nonskeletal malformations in one of three siblings with Jarcho-Levin syndrome of vertebral anomalies. J Pediatr 103:270-272.
27. Pérez-Comas A, García-Castro JM. 1974. Occipito-facial- cervicothoracic-abdomino-digital dysplasia: Jarcho-Levin syndrome of vertebral anomalies. J Pediatr 85:388-391.
28. Rimoin DL, Fletcher BD, McKusick VA. 1968. Spondylocostal dysplasia: A dominantly inherited form of short-trunked dwarfism. Am J Med 45: 948-953.
29. Roberts AP, Conner AN, Tolmie JL, Connor JM. 1988. Spondylothoracic and spondylocostal dysostosis: Hereditary forms of spinal deformity. J Bone Joint Surg 70-B:123-126.
30. Romero R, Ghidini A, Eswara MS, Seashore MR, Hobbins JC. 1988. Prenatal findings in a case of spondylocostal dysplasia type I (Jarcho-Levin syndrome). Obstet Gynecol 71:988-991.
31. Santiago-Cornier A, Ramirez N, Franceschini V, Acevedo J, Roman H, Rosado E, Garcia L, Torres J. 2001. Mapping of spondylothoracic dysplasia (Jarcho-Levin syndrome) to chromosome 2q32.1 in Puerto Rican population. Am J Human Genet 69-S(4):514.
32. Schulman M, Gonzalez MT, Bye MR. 1993. Airway abnormalities in Jarcho-Levin syndrome: A report of two cases. J Med Genet 30:875-876.
33. Solomon L, Bosch-Jiménez R, Reiner L. 1978. Spondylothoracic dysostosis. Arch Pathol Lab Med 102:201-205.
34. Tolmie JL, Whittle MJ, McNay MB, Gibson AAM, Connor JM. 1987. Second trimester prenatal diagnosis of the Jarcho-Levin syndrome. Prenatal Diag 7:129-134.
35. Trindade C, de Nóbrega FJ. 1977. Spondylothoracic dysplasia in two siblings. Clin Pediatr 16:1097-1099.
36. Turnpenny PD, Whitttock N, Duncan J, Dunwoodie S, Kusumi K, Ellard S. 2003. Novel mutation in DLL3, a somitogenesis gene encoding a ligand for the Notch signaling pathway of abnormal vertebral segmentation in spondylocostal dysostosis. J Med Genet 40:333-339.