Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship

American Journal of Medical Genetics

Volumn 8, Issue 1, 1981, Pages 117-127

  Casamassima, A C ^a   Morton, C C ^a   Nance, W E ^a   Kodroff, M ^b   Caldwell, R ^b   Kelly, T ^b   Wolf, B ^b  

^a VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ANUS ATRESIA; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BONE; CASE REPORT; CONGENITAL DISORDER; DIAGNOSIS; ETIOLOGY; GENITAL MALFORMATION; HEMIVERTEBRA; HEREDITY; JARCHO LEVIN SYNDROME; LARGE INTESTINE; MALE GENITAL SYSTEM; PEDIGREE; RIB MALFORMATION; SMALL INTESTINE; SYNDROME VACTERL; THORAX MALFORMATION; URINARY TRACT; UROGENITAL TRACT MALFORMATION; VERTEBRA MALFORMATION;

EID: 0019468565     PISSN: 01487299     EISSN: None     Source Type: None    
DOI: 10.1002/ajmg.1320080114     Document Type: Article

References (53)

1. 1 Mange AP: Wright's coefficient of inbreeding, F, for human pedigrees. In Morton NE (ed): “ Computer Applications in Genetics.” Honolulu, Hawaii: The University of Hawaii Press, 1969, p 72.
2. 2 Cavalli‐Sforza LL, Bodmer WF: “ The Genetics of Human Populations.” San Francisco: W. H. Freeman and Company, 1971, pp 350–352.
3. 3 Jarcho S, Levin PM: Hereditary malformation of the vertebral bodies. Bull Johns Hopkins Hosp 62: 216–226, 1938.
4. 4 Van der Sar A: Hereditary multiple hemivertebrae. Doc Med Geogr Trop 4: 23–28, 1952.
5. 5 Lavy NW, Palmer CG, Merritt AD: A syndrome of bizarre vertebral anomalies. J Pediatr 69: 1121–1125, 1966.
6. 6 Rimoin DL, Fletcher BD, McKusick VA: Spondylocostal dysplasia. Am J Med 45: 948–953, 1968.
7. 7 Castroviejo IP, Rodriguez‐Costa T, Castillo F: Spondylo‐thoracic dysplasia in three sisters. Dev Med Child Neurol 15: 348–354, 1973.
8. 8 Cantú JM, Urrusti J, Rosales G, Rojas A: Evidence for autosomal recessive inheritance of costovertebral dysplasia. Clin Genet 2: 149–154, 1971.
9. 9 Pérez‐Comas A, Garcia‐Castro JM: Occipito‐facial‐cervico‐thoracic‐abdomino‐digital dysplasia: Jarcho‐Levin syndrome of vertebral anomalies. J Pediatr 85: 388–391, 1974.
10. 10 Manzia S, Cortesi M, Grazioli M, Bonacini GC: La sindrome delle anomalie vertebro‐costali di Jarcho‐Levin. Minerva Pediatr 28: 2141–2146, 1976.
11. 11 Franceschini P, Grassi E, Fabris C, Bogetti G, Randaccio M: The autosomal recessive form of spondylocostal dysostosis. Radiology 112: 673–675. 1974.
12. 12 Castroviejo IP, Santologa JM, Martin VL, Rodriguez‐Costa T, Tendero A, Mulas F: Cerebro‐facio‐thoracic dysplasia: Report of three cases. Dev Med Child Neurol 17: 343–351, 1975.
13. 13 Turpin R, Lejeune J, Lafourcade J, Gautier M: Aberrations chromosomiques et maladies humaines. La polydysspondylie à 45 chromosomes. C R Acad Sci (Paris) 248: 3636–3638, 1959.
14. 14 Solomon L, Jiminez RB, Reiner L: Spondylotoracic dysostosis ‐ Report of two cases and review of the literature. Arch Pathol Lab Med 102: 201–205, 1975.
15. 15 Rimoin DL: International nomenclature of constitutional diseases of bone: Revision May, 1977. Am J Med Genet 3: 21–26, 1979.
16. 16 Moseley JE, Bonforte RJ: Spondylothoracic dysplasia ‐ A syndrome of congenital anomalies. Am J Roentgenol 106: 166–169, 1969.
17. 17 Pochaczevsky R, Ratner H, Perles D, Kassner G, Naysan P: Spondylothoracic dysplasia. Radiology 98: 53–58, 1971.
18. 18 Trindade CEP, de Nóbrega J: Spondylothoracic dysplasia in two siblings. Clin Pediatr 16: 1097–1099, 1977.
19. 19 Norum RA, McKusick VA: Costovertebral anomalies with apparent recessive inheritance. Birth Defects 5: 326–329, 1969.
20. 20 Lintermans JP, Seyhnaeve V: Hypothyroidism and vertebral anomalies‐ A new syndrome?. Am J Roentgenol 109: 294–298, 1970.
21. 21 Bartsocas CS, Kiossoglou KA, Papas CV, Xanthou‐Tsingoglou M, Anognostakis DE, Duskalopoulou HD: Costovertebral dysplasia. Birth Defects 10: 221–226, 1974.
22. 22 Silengo MC, Cavallaro S, Franceschini P: Recessive spondylocostal dysostosis: Two new cases. Clin Genet 13: 289–294, 1978.
23. 23 Devos EA, Leroy JG, Braeckman JJ, van den Bulcke LJ, Langer LO: Spondylocostal dysostosis and urinary tract anomaly: Definition and review of an entity. Eur J Pediatr 128: 7–15, 1978.
24. 24 Caffey JP: “ Pediatric X‐ray Diagnosis,” 5th ed. Chicago: Yearbook Medical Publishers, 1967, pp 1101–1112.
25. 25 Gellis SS, Feingold M: Picture of the month ‐ Spondylothoracic dysplasia (costovertebral dysplasia, Jarcho‐Levin syndrome). Am J Dis Child 130: 513–514, 1976.
26. 26 Morton NE: Segregation analysis. In Morton NE (ed): “ Computer Applications in Genetics.” Honolulu, Hawaii: The University of Hawaii Press, 1969, pp 129–139.
27. 27 Fuhrmann W: A new polydactyly/imperforate‐anus/vertebral‐anomalies syndrome?. Lancet 2: 918–919, 1968.
28. 28 Say B, Gerald PS: A new polydactyly/imperforate‐anus/vertebral‐anomalies syndrome?. Lancet 2: 688, 1968.
29. 29 Tünte W: A new polydactyly/imperforate‐anus/vertebral‐anomalies syndrome?. Lancet 2: 1081–1082, 1968.
30. 30 Millard M: The polydactyly/imperforate‐anus/vertebral‐anomalies syndrome. Lancet 1: 156, 1969.
31. 31 Say B, Balci S, Pirnar T, Hicsonmez A: Imperforate anus/polydactyly/vertebral‐anomalies syndrome: A hereditary trait?. J Pediatr 79: 1033–1034, 1971.
32. 32 Say B, Balci S, Pirnar T, Tuncbilek E: A new syndrome of dysmorphogenesis: Imperforate‐anus associated with poly‐oligodactyly and skeletal (mainly vertebral) anomalies. Acta Paediatr Scand 60: 197–202, 1971.
33. 33 Quan L, Smith DW: The VATER association: Vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial dysplasia. Birth Defects 8: 75–78, 1972.
34. 34 Townes PL, Brocks ER: Hereditary syndrome of imperforate anus with hand, foot and ear anomalies. J Pediatr 81: 321–325, 1972.
35. 35 Quan L, Smith DW: The VATER association‐vertebral defects, anal atresia, T‐E fistula with esophageal atresia, radial and renal dysplasia: A spectrum of associated defects. J Pediatr 82: 104–107, 1973.
36. 36 Barry JE, Auldist AW: The VATER association. Am J Dis Child 128: 769–771, 1974.
37. 37 Smith DW: The VATER association. Am J Dis Child 128: 767, 1974.
38. 38 Temtamy SA, Miller JD: Extending the scope of the VATER association: Definition of the VATER syndrome. J Pediatr 85: 345–349, 1974.
39. 39 Say B: Misuse of acronyms and the VATER association. J Pediatr 86: 315, 1975.
40. 40 Apold J, Dahl E, Aarskog D: The VATER association: Malformations of the male external genitalia. Acta Paediatr Scand 65: 150–152, 1976.
41. 41 Naveh Y, Friedman A: Familial imperforate anus. Am J Dis Child 130: 441–442, 1977.
42. 42 Lloyd DJ, McKenzie J, Kaye HH, Russell G: VATER syndrome: Hypothesis and report of two further cases. Teratology 15: 43–46, 1977.
43. 43 McNeal RM, Skoglund RR, Francke U: Congenital anomalies including the VATER association in a patient with a del(6)q deletion. J Pediatr 21: 957–958, 1977.
44. 44 Say B, Greenberg D, Harris R, De Lang SL, Coldwell JG: The radial dysplasia/imperforate anus/vertebral anomalies syndrome (the VATER association): Developmental aspects and eye findings. Acta Paediatr Scand 66: 233–235, 1977.
45. 45 Kurnit DM, Steele MW, Pinsky L, Dibbins A: Autosomal‐dominant transmission of a syndrome of anal, ear, renal, and radial congenital malformations. J Pediatr 93: 270–273, 1978.
46. 46 Temtamy S, McKusick VA: The genetics of hand malformations. Birth Defects 14: 135–143, 1978.
47. 47 Pietrzyk JJ, Turowski G: Immunogenetic bases of congenital malformations: Association of HLA‐B27 with spina bifida. Pediatr Res 13: 879–883, 1979.
48. 48 Ingalls H, Curley FJ: Principles governing the genesis of congenital malformation induced in mice by hypoxia. N Engl J Med 257: 1121–1127, 1957.
49. 49 Degenhardt KH, Knoche E: Analysis of intrauterine malformations of the vertebral column induced by oxygen deficiency. Can Med Assoc J 80: 441–445, 1959.
50. 50 DeGrouchy J, Mlynarski J‐C, Maroteaux P, Lamy M, Deshaies G, Benichou C, Sulmon C: Syndrome polydysspondylique par translocation 14–15 et dyschondrostéose chez un měme sujet. Ségrégation familiale. C R Acad Sci (Paris) 256: 1614–1616, 1963.
51. 51 Eller JL, Morton JM: Bizarre deformities in offspring of users of lysergic acid diethylamide. N Engl J Med 283: 395–397, 1970.
52. 52 Bergsma D (ed): “ Birth Defects Compendium,” 2nd Ed. New York: Alan R. Liss, Inc., 1979.
53. 53 Pinsky L: The syndromology of anorectal malformation (atresia, stenosis, ectopia). Am J Med Genet 1: 461–474, 1978.