Multiple vertebral segmentation defects: Analysis of 26 new patients and review of the literature

American Journal of Medical Genetics

Volumn 61, Issue 4, 1996, Pages 310-319

  Mortier, Geert R ^a   Lachman, Ralph S ^a   Bocian, Maureen ^b   Rimoin, David L ^a,c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

Jarcho Levin syndrome; spondylocostal dysostosis; spondylothoracic dysostosis; vertebra segmentation defects

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL MALFORMATION; DISEASE ASSOCIATION; DWARFISM; DYSOSTOSIS; FEMALE; GENETIC ANALYSIS; HUMAN; MALE; PRIORITY JOURNAL; VERTEBRA MALFORMATION;

ADOLESCENT; ANIMALS; CHILD; CHILD, PRESCHOOL; DWARFISM; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; THORACIC VERTEBRAE; VERTEBRATES;

DECAPODA (CRUSTACEA);

EID: 0030064549     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960202)61:4<310::AID-AJMG3>3.0.CO;2-Y     Document Type: Article

References (52)

1. Aymé S, Preus M (1986): Spondylocostal/spondylothoracic dysostosis: The clinical basis for prognosticating and genetic counseling. Am J Med Genet 24:599-606.
2. Beighton P, Koran FT (1981): Spondylocostal dysostosis in South African sisters. Clin Genet 19:23-25.
3. Bonaime JL, Bonne B, Joannard A, Gueraud L, Guilhot J, Cotton B, Butel J, Gilly R, Bost M (1978): Le syndrome de dysostose spondylothoracique ou spondylocostale. Pédiatrie 33:173-188.
4. Caffey J (1967): "Pediatric X-ray diagnosis." Chicago: Year Book Medical Publishers, pp 1101-1111.
5. Cantu JM, Urrusti J, Rosales G, Rojas A (1971): Evidence for autosomal recessive inheritance of costovertebral dysplasia. Clin Genet 2:149-154.
6. Casamassima AC, Morton CC, Nance WE, Kodroff M, Caldwell, Kelly T, Wolf B (19810: Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship. Am J Med Genet 8:117-127.
7. Castroviejo IP, Rodriguez-Costa T, Castillo F (1973): Spondylothoracic dysplasia in three sisters. Develop Med Child Neurol 15:348-354.
8. David TJ, Glass A (1983): Hereditary costovertebral dysplasia with malignant cerebral tumour. J Med Genet 20:441-444.
9. Delgoffe C, Hoeffel JC, Worms AM, Bretagne MC, Pernot C, Pierson M (1982): Dysostoses spondylocostales et cardiopathies congenitales. Ann Pédiat 29:135-139.
10. Devos EA, Leroy JG, Braeckman JJ, Vanden Bulcke LJ, Langer LO (1978): Spondylocostal dysostosis and urinary tract anomaly: Definition and review of an entity. Eur J Pediatr 128:7-15.
11. Eller JL, Morton JM (1970): Bizarre deformities in offspring of user of lysergic acid diethylamide. N Engl J Med 283:395-397.
12. 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.
13. Fogarty EE, Beatty T, Dowling F (1985): Spondylocostal dysplasia in identical twins. J Pediatr Orthop 5:720-721.
14. Franceschini P, Grassi E, Fabris C, Bogetti G, Randaccio M (1974): The autosomal recessive form of spondylocostal dysostosis. Radiology 112:673-675.
15. Giacoia GP, Say B (1991): Spondylocostal dysplasia and neural tube defects. J Med Genet 28:51-53.
16. Herold HZ, Edlitz M, Baruchin A (1988): Spondylothoracic dysplasia: A report of ten cases with follow-up. Spine 13:478-481.
17. Heilbronner DM, Renshaw TS (1984): Spondylothoracic dysplasia. J Bone Joint Surg (Am) 66-A:302-303.
18. Ho NK (1992): Spondylothoracic dysplasia (Jarcho-Levin syndrome) in a Chinese baby. J Paediatr Child Health 28:465-466.
19. Jarcho S, Levin PM (1938): Hereditary malformation of the vertebral bodies. Bull Johns Hopkins Hosp 62:216-226.
20. Karnes PS, Day D, Barry SA, Pierpont MEM (1991): Jarcho-Levin syndrome: Four new cases and classification of subtypes. Am J Med Genet 40:264-270.
21. Kubryk N, Borde M (1981): La dysostose spondylocostale. Pédiatrie 17:137-146.
22. Lakshminarayana P, Janardhan K, Jegatheesan T, Prakash S (1992): Spondylocostal dysplasia. Indian Ped 29:922-924.
23. Lavy NW, Palmer CG, Merritt AD (1966): A syndrome of bizarre vertebral anomalies. J Pediatr 69:1121-1125.
24. Lin AE, Harster GA (1993): Another case of spondylocostal dysplasia and severe anomalies (letter). Am J Med Genet 46:476-477.
25. Lorenz P, Rupprecht E (1990): Spondylocostal dysostosis: Dominant type. Am J Med Genet 35:219-221.
26. Marks F, Hernanz-Schulman M, Horii S, Greenland VC, Lustig I, Snyder J, Young BK, Greco MA, Subramanyam B, Genieser NB (1989): Spondylothoracic dysplasia: clinical and sonographic diagnosis. J Ultrasound Med 8:1-5.
27. Maroteaux P (1970): Nomenclature internationale des maladies osseuses constitutionelles. Ann Radiol 13:455-464.
28. Marti D, Villanueva C, Bago J, Castellet E (1988): Spondylothoracic dysplasia: report of four cases. Acta Orthop Belgica 54:413-417.
29. McKusick VA, Scott CI (1971): A nomenclature for constitutional disorders of bone. J Bone Joint Surg 53A:978-986.
30. Moseley JE, Bonforte RJ (1969): Spondylothoracic dysplasia - a syndrome of congenital anomalies. Am J Roentgenol 106:166-169.
31. Murr MM, Waziri MH, Schelper RL, Abu-Youself M (1992): Case of multivertebral anomalies, cloacal dysgenesis, and other anomalies presenting prenatally as cystic kidneys. Am J Med Genet 42: 761-765.
32. Norum RA, McKusick VA (1969): Costovertebral anomalies with apparent recessive inheritance. In Bergsma D (ed): "Birth Defects" OAS 18 326-329.
33. Ohzeki T, Shiraishi M, Matsumoto Y, Takagi J, Motozumi H, Hanaki K (1990): Sporadic occurrence of spondylocostal dysplasia and mesocardia in a Japanese girl. Am J Med Genet 37:427-428.
34. Peralta A, Lopez C, Gracia R, Crespo LM (1967): Polidispondilia familiar. Rev Pediatr Obstet Gynecol [Pediatr] VII:93-96.
35. Pérez-Comas A, Garcia-Castro JM (1974): Occipito-facial-cervico-thoracic-abdomino-digital dysplasia; Jarcho-Levin syndrome of vertebral anomalies. J Pediatr 85:388-391.
36. Pochaczevsky R, Ratner H, Perles D, Kassner G, Naysan P (1971): Spondylothoracic dysplasia. Radiology 98:53-58.
37. Poor MA, Alberti O, Griscom NT, Driscoll SG, Holmes LB (1983): Nonskeletal malformations in one of three siblings with Jarcho-Levin syndrome of vertebral anomalies. J Pediatr 103:270-272.
38. Reyes MG, Morales A, Harris V, Barreta TM, Goldbarg H (1989): Neural defects in Jarcho-Levin syndrome. J Child Neurol 4:51-54.
39. Rimoin DL, Fletcher BD, McKusick VA (1968): Spondylocostal dysplasia: a dominantly inherited form of short-trunked dwarfism. Am J Med 45:948-953.
40. Roberts AP, Conner AN, Tolmie JL, Connor JM (1988): Spondylothoracic and spondylocostal dysostosis. J Bone Joint Surg (Br) 70-B:123-126.
41. Romeo MG, Distefano G, Di Bella D, Mangiagli A, Caltabiano L, Roccaro S, Mollica F (1991): Familial Jarcho-Levin syndrome. Clin Genet 39:253-259.
42. Rütt A, Degenhardt KH (1959): Beitrag zur Ätiologie und Pathogenese von Wirbelsäulenmißbildungen. Arch Orthop Unfallchir 51:120-139.
43. Satar M, Kozanoglu MN, Atilla E (1992): Identical twins with an autosomal recessive form of spondylocostal dysostosis. Clin Genet 41: 290-292.
44. Silengo MC, Cavallaro S, Francerschini P (1978): Recessive spondylocostal dysostosis: Two new cases. Clin Genet 13:289-294.
45. Solomon L, Jimenez B, Reiner L (1978): Spondylothoracic dysostosis. Arch Pathol Lab Med 102:201-205.
46. Temple IK, Thomas TG, Baraitser M (1988): Congenital spinal deformity in a three generation family. J Med Genet 25:831-834.
47. Tolmie JL, Whittle MJ, McNay MB, Gibson AAM, Connor JM (1987): Second trimester prenatal diagnosis of the Jarcho-Levin syndrome. Prenat Diagn 7:129-134.
48. Trindade CEP, de Nobrega FJ (1977): Spondylothoracic dysplasia in two siblings. Clin Ped 16:1097-1099.
49. Turnpenny PD, Thwaites RJ, Boulos FN (1991): Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis. J Med Genet 28:27-33.
50. van der Sar A (1952): Hereditary multiple hemivertebrae. Docum Med Geographica et Tropica 4:23-28.
51. Waaler PE, Aarskog D (1980): Syndrome of hydrocephalus, costovertebral dysplasia and Sprengel anomaly with autosomal dominant inheritance. Neuropediatrics 11:291-297.
52. Young ID, Moore JR (1984): Spondylocostal dysostosis. J Med Genet 21:68-69.