Familial recurrence of tracheoesophageal fistula and associated malformations

American Journal of Medical Genetics

Volumn 63, Issue 4, 1996, Pages 525-528

  McMullen, Kevin P ^a   Karnes, Pamela S ^b   Moir, Christopher R ^b   Michels, Virginia V ^b  

^a MAYO CLINIC COLLEGE OF MEDICINE   (United States)

^b MAYO CLINIC   (United States)

Author keywords

trachea malformation; tracheoesophageal fistula; VATER VACTERL association

Indexed keywords

ANORECTAL MALFORMATION; ARTICLE; CONGENITAL BLOOD VESSEL MALFORMATION; CONGENITAL HEART MALFORMATION; DISEASE ASSOCIATION; ESOPHAGUS ATRESIA; FAMILIAL DISEASE; FEMALE; HUMAN; KIDNEY MALFORMATION; LIMB MALFORMATION; MAJOR CLINICAL STUDY; MALE; MALFORMATION SYNDROME; PRIORITY JOURNAL; RECURRENCE RISK; SIBLING; TRACHEOESOPHAGEAL FISTULA;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; INCIDENCE; MALE; MIDDLE AGED; PEDIGREE; QUESTIONNAIRES; TRACHEOESOPHAGEAL FISTULA;

EID: 0029987634     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960628)63:4<525::AID-AJMG3>3.0.CO;2-N     Document Type: Article

References (24)

1. Barnes JC, Smith WL (1978): The VATER association. Radiology 126: 445-449.
2. Belknap WM (1990): Developmental disorders of gastrointestinal function. In Oski FA, DeAngelis CD, Feigin RD, Warshaw JB (eds): "Principles and Practice of Pediatrics." Philadelphia: Lippincott, p 372.
3. Bixler D, Antley RM (1974): Microcephalic Dwarfism in Sisters. In Bergsma D, Feingold M, Gellis SS (eds): "Malformation Syndromes." New York: Alan R. Liss, Inc., for the National Foundation - March of Dimes. BD:OAS X (7):161-165.
4. Blaichman S (1982): Tracheoesophageal fistula, protruding pinnae, proximal interphalangeal symphalangism of fifth finger. A new syndrome? Am J Med Genet 13:233-234.
5. Briard ML, Frezal J, Kaplan J, Nihoul-Fekete C, Valayer J (1977): Les malformations ano-rectales et l'atresie de l'oesophage. Arch Fr Pediatr 34:172-183.
6. Chen H, Goei GS, Hertzler JH (1979): Family studies on congenital esophageal atresia with or without tracheoesophageal fistula. New York: Alan R. Liss for the National Foundation - March of Dimes. BD:OAS XV (5C):117-144.
7. Currarino G, Friedman JM (1986): A severe form of congenital contractural arachnodactyly in two newborn infants. Am J Med Genet 225:763-773.
8. Czeizel A, Ludanyi I (1985): An etiological study of the VACTERL-association. Eur J Pediatr 144:331-337.
9. David TJ, O'Callaghan SE (1975): Oesophageal atresia in the south west of England. J Med Genet 12:1-114.
10. Duncan PA, Shapiro LR (1988): Sirenomelia and VATER association: Possible interrelated disorders with common embryologic pathogenesis. Dysmorphol Clin Genet 2:96-103.
11. Gray SW, Skandalakis JE (1972): The esophagus. In Gray SW, Skandalakis JE (eds): "Embryology for Surgeons." Philadelphia: W.B. Saunders, pp 69-73.
12. Hodson CJ, Shaw DG (1973): Congenital atresia of the esophagus and thirteen pairs of ribs. Pediatr Radiol 1:248.
13. King SL, Ladda RL, Shochat SJ (1977): Monozygotic twins concordant for tracheoesophageal fistula and discordant for the VATER Association. Acta Paediatr Scand 66:783-785.
14. Konig R, Selzer G, Stolp A, Fuchs S (1990): Microcephaly, mesobrachyphalangy, and tracheoesophageal fistula: MMT syndrome. Dysmorphol Clin Genet 4:83-86.
15. Mehes K (1984): Esophageal atresia, coloboma, and clubfoot in two unrelated infants. Hum Genet 67:35.
16. 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.
17. Quan L, Smith DW (1973): The VATER association. J Pediatr 82: 104-107.
18. Rogers RC (1988): Unknown case-SCB (GGC-10079) 11 month old white male. Proc Greenwood Genet Center 7:57.
19. Rosenak D, Ariel I, Arnon J, Diamont YZ, Ben Chetrit A, Nadjari M, Zilberman R, Yaffe H, Cohen T, Ornoy A (1991): Recurrent tetraamelia and pulmonary hypoplasia with multiple malformations in sibs. Am J Med Genet 38:25-28.
20. Shackelford GD, McAllister WM, Brodeur AF, Ragadale EF (1973): Congenital microgastria. AJR 118:72-76.
21. Siegler RL, Larsen P, Buehler BA (1980): Upper limb anomalies and renal disease. Clin Genet 17:117-119.
22. Skinner R (1990): Genetic counseling. In Emery AE, Rimoin DL (eds): "Principles and Practice of Medical Genetics." New York: Churchill-Livingstone, p 1928.
23. Szendrey T, Danyi G, Czeizel A (1985): Etiological study on isolated esophageal atresia. Hum Genet 70:51-58.
24. Warren J, Evans K, Carter CO (1979): Offspring of patients with tracheoesophageal fistula. J Med Genet 16:338-340.