A familial disorder with duodenal atresia and tetralogy of fallot

American Journal of Medical Genetics

Volumn 66, Issue 1, 1996, Pages 39-44

  Lemire, Edmond G ^a   Evans, Jane A ^a   Giddins, Niels G ^a   Harman, Christopher R ^b   Wiseman, Nathan E ^b   Chudley, Albert E ^a,c  

^a Variety Children's Heart Centre   (Canada)

^b HEALTH SCIENCES CENTRE   (Canada)

^c CHILDREN S HOSPITAL RESEARCH INSTITUTE OF MANITOBA   (Canada)

Author keywords

autosomal inheritance; duodenal atresia; facial palsy; familial disorder; microtia; neural crest; tetralogy of Fallot; vascular disruption

Indexed keywords

DIGOXIN; HYDROCHLOROTHIAZIDE; SPIRONOLACTONE;

ARTICLE; BLALOCK TAUSSIG ANASTOMOSIS; CASE REPORT; CHILD; DISEASE PREDISPOSITION; DUODENUM ATRESIA; ECHOCARDIOGRAPHY; ECHOGRAPHY; FACIAL NERVE PARALYSIS; FALLOT TETRALOGY; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; HUMAN; INFANT; MALE; NEURAL CREST CELL; PEDIGREE; PRIORITY JOURNAL; SIBLING;

CHILD; DUODENAL OBSTRUCTION; FEMALE; HUMANS; INFANT, NEWBORN; INTESTINAL ATRESIA; MALE; PEDIGREE; TETRALOGY OF FALLOT;

MICROTIA; RAPHIA FRATER;

EID: 0029909795     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961202)66:1<39::AID-AJMG9>3.0.CO;2-R     Document Type: Article

References (29)

1. Aylsworth AS (1990): Anus-hand-ear syndrome. In Buyse ML (ed): "Birth Defects Encyclopedia." Cambridge: Blackwell Scientific Publications, p 155.
2. Besser AS (1990): Duodenum, atresia or stenosis. In Buyse ML (ed): "Birth Defects Encyclopedia." Cambridge: Blackwell Scientific Publications, pp 549-550.
3. Best LG, Wiseman NE, Chudley AE (1989): Familial duodenal atresia: A report of two families and review. Am J Mod Genet 34:442-444.
4. Buckfield PM, Holdaway MD, Horowitz S, Kean MR (1971): Bilateral congenital choanal atresia associated with anomalies of the foregut. Aust Paediatr J 7:37-44.
5. Cook JA, Bennett C (1995): A child with oligo-syndactyly and 'apple-peel' bowel atresia. Clin Dysmorphol 4:79-81.
6. Cragan JD, Martin ML, Moore CA, Khoury MJ (1993): Descriptive epidemiology of small intestinal atresia, Atlanta, Georgia. Teratology 48:441-150.
7. Emanuel BS, Budarf ML, Sellinger B, Goldmuntz E, Driscoll DA (1992): Detection of microdeletions of 22q11.2 with fluorescence in situ hybridization (FISH): Diagnosis of DiGeorge syndrome (DGS), velocardio-facial (VCF) syndrome, CHARGE association and conotruncal malformations (Abstract). Am J Hum Genet 51(suppl):A3.
8. Evans JA, Czeizel AE (1995): Concordance of small intestinal atresias and congenital limb deficiencies. Proc Greenwood Genet Center (in press).
9. Fonkalsrud EW, deLorimier AA, Hays DM (1969): Congenital atresia and stenosis of the duodenum. Pediatrics 43:79-83.
10. Glover TW (1995): CATCHing a break on 22. Nature Genet 10:257-258.
11. Graham TP Jr (1990): Heart, tetralogy of Fallot. In Buyse ML (ed): "Birth Defects Encyclopedia." Cambridge: Blackwell Scientific Publications, pp 846-847.
12. Hall BD (1979): Choanal atresia and associated multiple anomalies. J Pediatr 95:395-398.
13. Kawashima H, Ohno I, Ueno Y, Nakaya S, Kato E, Taniguchi N (1987): Syndrome of microtia and aortic arch anomalies resembling isotretinoin embryopathy. J Pediatr 111:738-740.
14. Kirby ML, Waldo KL (1990): Role of neural crest in congenital heart disease. Circulation 82:332-340.
15. König R, Schick U, Fuchs S (1990): Townes-Brocks syndrome. Eur J Pediatr 150:100-103.
16. Matthies F (1966): The triad of anotia, facial paralysis, and cardiac anomaly not due to thalidomide. JAMA 195(8):183-184.
17. McKusick VA (1992): Choanal atresia, posterior [PCA; CHARGE Association - coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies included]. In: "Online Mendelian inheritance in man (OMIM), Catalogs of autosomal dominant, autosomal recessive, X-linked, Y-linked and mitochondrial phenotypes." Baltimore: The John Hopkins University Press, MIM# 214800.
18. Monteiro de Pina-Neto J (1984): Phenotypic variability in Townes-Brocks syndrome. Am J Med Genet 18:147-152.
19. Mooy CM, Clark BJ, Lee WR (1990): Posterior axial corneal malformation and uveoretinal angiodysgenesis: A neurocristopathy? Graefe's Arch Clin Exp Ophthalmol 228:9-18.
20. O'Callaghan M, Young ID (1990): The Townes-Brocks syndrome. J Med Genet 27:457-461.
21. Oley CA, Baraitser M, Grant DB (1988): A reappraisal of the CHARGE association. J Med Genet 25:147-156.
22. Passarge E, Stevenson RE (1993): Small and large intestines. In Stevenson RE, Hall JG, Goodman RM (eds): "Human Malformations and Related Anomalies," Vol. II.New York: Oxford University Press, Inc., pp 475-492.
23. Pearl W (1984): Syndrome of anotia, facial paralysis and congenital heart disease. J Pediatr 105:441-442.
24. Pictures of standard syndromes and undiagnosed malformations (P.O.S.S.U.M.), Version 4.0 (1994): Melbourne: Computer Power Group and The Murdoch Institute into Birth Defects.
25. Robinow M, Reynolds JF, Fitzgerald J, Bryant JA (1986): Brief clinical report: Hemifacial microsomia, ipsilateral facial palsy, and malformed auricle in two families: An autosomal dominant malformation. Am J Med Genet suppl 2:129-133.
26. Siebert JR, Graham JM Jr, MacDonald C (1985): Pathologic features of the CHARGE association: Support for involvement of the neural crest. Teratology 31:331-336.
27. Silver W, Steier M, Schwartz O, Zeichner MB (1972): The Holt-Oram syndrome with previously undescribed associated anomalies. Am J Dis Child 124:911-914.
28. Van Allen MI (1992): Structural anomalies resulting from vascular disruption. Pediatr Clin North Am 39:255-277.
29. Voisin M, Galifer RB, Kadiri T, Grolleau R, Dumas R, Jean R (1987): Malformations intestinales et cardiopathies congénitales. Arch Mal Coeur Vaiss 80:524-528.