Oesophageal atresia, related malformations, and medical problems: A family study

American Journal of Medical Genetics

Volumn 85, Issue 1, 1999, Pages 31-37

  Brown, Andrea K ^a   Roddam, Andrew W ^a   Spitz, Lewis ^b   Ward, Simon J ^c,d  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF SHEFFIELD   (United Kingdom)

^d Western Bank ^*  (United Kingdom)

Author keywords

Midline defects; Oesophageal atresia; Tracheo oesophageal fistula; VACTERL association

Indexed keywords

ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; ESOPHAGUS ATRESIA; FAMILY HISTORY; GASTROESOPHAGEAL REFLUX; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; TRACHEOESOPHAGEAL FISTULA;

ABNORMALITIES, MULTIPLE; ESOPHAGEAL ATRESIA; HUMANS; LINKAGE (GENETICS); PEDIGREE;

FISTULA;

EID: 0033516699     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990702)85:1<31::AID-AJMG7>3.0.CO;2-D     Document Type: Article

References (52)

1. Ashcraft KW, Goodwin C, Amoury RA, Holder TM. 1977. Early recognition and aggressive treatment of gastroesophageal reflux following repair of esophageal atresia. J Pediatr Surg 12:317-321.
2. Barbujani G, Russo A, Farabegoli A, Calzolari E. 1989. Inferences on the inheritance of congenital anomalies from temporal and spatial patterns of occurrence. Genet Epidemiol 6:537-552.
3. Beasley S, Allen M, Myers N. 1997. The effects of Down syndrome and other chromosomal abnormalities on survival and management in oesophageal atresia. Pediatr Surg Int 12:550-551.
4. Benady SG, Harris RJ. 1969. Trisomy 17-18: a study of five cases, three of whom were associated with oesophageal atresia. Acta Paediatr Scand 58:445-448.
5. Benjamin B, Cohen D, Glasson M. 1976. Tracheomalacia in association with congenital tracheoesophageal fistula. Surgery 79:504-508.
6. Blair GK, Filler RM. 1986. Treatment of tracheomalacia: eight years' experience. J Pediatr Surg 21:791-785.
7. Castilla EE, Orioli IM, Lugarinho R, Dutra GP, Lopez-Camelo JS, Campana HE, Spagnolo A, Mastroiacovo P. 1990. Monthly and seasonal variations in frequency of congenital anomalies. J Epidemiol 19:399-404.
8. Checuti P, Phelan PD. 1993a. Gastrointestinal morbidity and growth after repair of oesophageal atresia and tracheo-oesophageal fistula. Arch Dis Child 68:163-166.
9. Checuti P, Phelan PD. 1993b. Respiratory morbidity after repair of oesophageal atresia and tracheo-oesophageal fistula. Arch Dis Child 68:167-170.
10. Cheng W, Bishop AE, Spitz L, Polak JM. 1997. Abnormalities of neuropeptides and neural markers in the esophagus of rats with adriamycin-induced esophageal atresia. J Pediatr Surg 32:1420-1423.
11. Chittmittrapap S, Spitz L, Kiely EM, Brereton RJ. 1989. Oesophageal atresia and associated anomalies. Arch Dis Child 64:364-368.
12. Cozzi F, Myers NA, Piacenti S, Orfei P, Cozzi DA, Bonanni M, Madonna L. 1993. Maturational dysautonomia and facial anomalies associated with esophageal atresia: support for neural crest involvement. J Pediatr Surg 28:798-801.
13. David TJ, O'Callaghan SE. 1975. Oesophageal atresia in the south west of England. J Med Genet 12:1-11.
14. Davies MRQ. 1996. Anatomy of the extrinsic motor supply to mobilised segments of the oesophagus disrupted by dissection during repair of oesophageal atresia with distal fistula. Br J Surg 83:1268-1270.
15. Dennis NR, Nicholas JL, Kovar I. 1973. Oesophageal atresia: 3 cases in 2 generations. Arch Dis Child 48:980-982.
16. Depaepe A, Dolk H, Lechat MF. 1993. The epidemiology of tracheooesophageal fistula and oesophageal atresia in Europe. Arch Dis Child 68:743-748.
17. Dudley NE, Phelan PD. 1976. Respiratory complications in long-term survivors of oesophageal atresia. Arch Dis Child 51:279-282.
18. Duncan PA, Shapiro LR, Klein RM. 1991. Sacrococcygeal dysgenesis association. Am J Med Genet 41:153-161.
19. Ein SH, Shandling B, Heiss K. 1993. Pure esophageal atresia: outlook in the 1990s. J Pediatr Surg 28:1147-1150.
20. Ein SH, Shandling B, Wesson D, Filler RM. 1989. Esophageal atresia with distal tracheoesophageal fistula: associated anomalies and prognosis in the 1980s. J Pediatr Surg 24:1055-1059.
21. Engel PMA, Vos LJM, DeVries JA, Kuijjer PJ. 1970. Esophageal atresia with tracheoesophageal fistula in mother and child. J Pediatr Surg 5:564-565.
22. Erichsen G, Hauge M, Madsen CM, Roed-Petersen K, Sondergaard T. 1981. Two-generation transmission of oesophageal atresia with tracheo-oesophageal fistula. Acta Paediatr Scand 70:253-254.
23. Harris J, Källén B, Robert E. 1995. Descriptive epidemiology of alimentary tract atresia. Teratology 52:15-29.
24. Jolley SG, Johnson DG, Roberts CC, Herbst JJ, Matlak ME, McCombs A, Christian P. 1980. Patterns of gastroesophageal reflux in children following repair of esophageal atresia and distal tracheoesophageal fistula. J Pediatr Surg 15:857-861.
25. Kaufman RL. 1973. Birth defects and oral contraceptives. Lancet 1:1396.
26. Leek I, Lancashire RJ. 1995. Birth prevalence of malformations in members of different ethnic groups and in the offspring of matings between them, in Birmingham, England. J Epidemiol Community Health 49: 171-179.
27. Ludman L, Spitz L, Lansdown R. 1993. Intellectual development at 3 years of age of children who underwent major neonatal surgery. J Pediatr Surg 28:130-134.
28. Martínez-Frías M-L, Frías J, Opitz JM. 1998. Errors of morphogenesis and developmental field theory. Am J Med Genet 76:291-296.
29. McMullen KP, Karnes PS, Moir CR, Michels W. 1996. Familial recurrence of tracheoesophageal fistula and associated malformations. Am J Med Genet 63:525-528.
30. Nakazato Y, Landing BH, Wells TR. 1986. Abnormal Auerbach plexus in the esophagus and stomach of patients with esophageal atresia and tracheoesophageal fistula. J Pediatr Surg 21:831-837.
31. Nora AH, Nora JJ. 1975. A syndrome of multiple congenital anomalies associated with teratogenic exposure. Arch Environ Health 30:17-21.
32. Opitz JM. 1993. Blastogenesis and the "primary field" in human development. Birth Defects 29:3-37.
33. Opitz JM. 1994. Associations and syndromes: terminology in clinical genetics and birth defect epidemiology: comments on Khoury, Moore, and Evands. Am J Med Genet 49:14-20.
34. Opitz JM, Gilbert EF. 1982. CNS anomalies and the midline as a developmental field. Am J Med Genet 12:443-455.
35. Orenstein SR, Shalaby TM, Conn JF. 1996. Reflux symptoms in 100 normal infants: diagnostic validity of the infant gastroesophageal reflux questionnaire. Clin Pediatr (Phila) 35:607-614.
36. Orringer MB, Kirsh MM, Sloan H. 1977. Long-term esophageal function following repair of esophageal atresia. Ann Surg 186:436-443.
37. Parker AF, Christie DL, Cahill JL. 1979. Incidence and significance of gastroesophageal reflux following repair of esophageal atresia and tracheoesophageal fistula and the need for anti-reflux procedures. J Pediatr Surg 14:5-7.
38. Pletcher BA, Friedes JS, Breg WR, Touloukian RJ. 1991. Familial occurrence of esophageal atresia with and without tracheoesophageal fistula: report of two unusual kindreds. Am J Med Genet 39:380-384.
39. Powell CM, Chandra RS, Saal HM. 1993. PHAVER syndrome: an autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies, and radial defects. Am J Med Genet 47:807-811.
40. Quan L, Smith DW. 1973. The VATER association. J Pediatr 82:104-107.
41. Rittler M, Paz JE, Castilla EE. 1997. VATERL: an epidemiologic analysis of risk factors. Am J Med Genet 73:162-169.
42. Rittler M, Paz JE, Castilla EE. 1996. VACTERL association, epidemiologic definition and delineation. Am J Med Genet 63:529-536.
43. Robert E, Francannet C, Robert J-M. 1988. Le registre de malformations de la région Rhône-Alpes/Auvergne. Intérét et limites de la tératovigilance. Onze années d'expérience (1976-1986). J Gynecol Obstet Biol Reprod (Paris) 17:601-607.
44. Robert E, Mutchinick O, Mastroiacovo P, Knudsen LB, Daltveit AK, Castilla EE, Lancaster P, Källén B, Cocchi G. 1993. An international collaborative study of the epidemiology of esophageal atresia or stenosis. Reprod Toxicol 7:405-421.
45. Russell LJ, Weaver DD, Bull M. 1981. The axial mesodermal dysplasia spectrum. Paediatrics 67:176-182.
46. Schinzel AAGL, Smith DW, Miller JR. 1979. Monozygotic twinning and structural defects. J Pediatr 95:921-930.
47. Spranger J, Benirschke K, Hall JG, Lenz W, Lowry RB, Opitz JM, Pinsky L, Schwartzacher HG, Smith DW. 1982. Concepts and terms. Recommendations of an international working group. J Pediatr 100:160-165.
48. Sutphen R, Glan-Gomez E, Cortada X, Newkirk PN, Koussett KB, Boris G. 1995. Tracheoesophageal anomalies in oculoauricularvertebral (Goldenhar) spectrum. Clin Genet 48:66-71.
49. Tanaka M, Tamura K, Hiroyuki I. 1996. Citral, an inhibitor of retinoic acid synthesis, modifies chick limb development. Dev Biol 175:239-247.
50. Tellier AL, Cormier-Daire V, Abadie V, Amiel J, Sigaudy S, Bonnet D, de Lonlay-Debeney P, Morrisseau-Durand MP, Hubert P, Michel JL, Jan D, Dollfus H, Baumann C, Labrune P, Lacombe D, Philip N, LeMerrer M, Briard ML, Munnich A, Lyonnet S. 1998. CHARGE syndrome: report of 47 cases and review. Am J Med Genet 76:402-409.
51. Torfs CP, Curry CJR, Bateson TF. 1995. Population-based study of tracheoesophageal fistula and esophageal atresia. Teratology 52:220-232.
52. Yang P, Khoury MJ, Stewart WF, Beaty TH, Chee E, Beatty JC, Diamond EL, Gordis L. 1994. Comparitive epidemiology of selected midline congenital abnormalities. Genet Epidemiol 11:141-154.