Inheritance of the VATER/VACTERL association

Pediatric Surgery International

Volumn 28, Issue 7, 2012, Pages 681-685

  Bartels, Enrika ^a   Jenetzky, Ekkehart ^b   Solomon, Benjamin D ^c   Ludwig, Michael ^a   Schmiedeke, Eberhard ^a,d   Grasshoff Derr, Sabine ^e   Schmidt, Dominik ^f   Märzheuser, Stefanie ^f   Hosie, Stuart ^g   Weih, Sandra ^h   Holland Cunz, Stefan ^h   Palta, Markus ⁱ   Leonhardt, Johannes ^j   Schäfer, Mattias ^k   Kujath, Christina ^l   Rißmann, Anke ^m   Nöthen, Markus M ^a   Reutter, Heiko ^a   Zwink, Nadine ^b  

^a UNIVERSITY OF BONN   (Germany)

^b GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^d Hospital Bremen Mitte   (Germany)

^e UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

^f CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^g TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^h UNIVERSITY OF HEIDELBERG   (Germany)

ⁱ Evangelisches Krankenhaus Hamm   (Germany)

^j St Bernward Hospital   (Germany)

^k Cnopf sche Klinik   (Germany)

^l UNIVERSITY OF GREIFSWALD   (Germany)

^m OTTO VON GUERICKE UNIVERSITY   (Germany)

more..

Author keywords

Association; First degree relatives; Inheritance; VACTERL; VATER

Indexed keywords

ANUS ATRESIA; ARTICLE; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; DISEASE ASSOCIATION; DISEASE COURSE; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC RISK; HUMAN; KIDNEY MALFORMATION; LIMB DEFECT; MAJOR CLINICAL STUDY; MALE; PREVALENCE; PRIORITY JOURNAL; TRACHEOESOPHAGEAL FISTULA; VERTEBRA MALFORMATION;

ABNORMALITIES, MULTIPLE; ANAL CANAL; ANUS, IMPERFORATE; COHORT STUDIES; ESOPHAGUS; EUROPE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; KIDNEY; LIMB DEFORMITIES, CONGENITAL; MALE; ODDS RATIO; PREVALENCE; RADIUS; SPINE; TRACHEA;

EID: 84863986899     PISSN: 01790358     EISSN: 14379813     Source Type: Journal    
DOI: 10.1007/s00383-012-3100-z     Document Type: Article

References (11)

1. Quan L, Smith DW (1973) 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
2. Kaufman RL (1973) Birth defects and oral contraceptives. Lancet 1:1396
3. Temtamy SA, Miller JD (1974) Extending the scope of the VATER association: definition of the VATER syndrome. J Pedi-atr 85:345-349
4. Botto LD, Khoury MJ, Mastroiacovo P, Castilla EE, Moore CA, Skjaerven T et al (1997) The spectrum of congenital anomalies of the VATER association: an international study. Am J Med Genet 71:8-15
5. Khoury MJ, Cordero JF, Greenberg F, James LM, Erickson JD (1983) A population study of the VACTERL association: evidence for its etiologic heterogeneity. Pediatrics 71:815-820
6. Solomon BD, Pineda-Alvarez DE, Raam MS, Cummings DA (2010) Evidence for inheritance in patients with VACTERL association. Hum Genet 127:731-733
7. SoMA e. V. (2012) German self-help organisation for people with anorectal malformations (Internet). Munich, Germany. Available from: http://www.soma-ev. de
8. Levitt MA, Peña A (2007) Anorectal malformations. Orphanet J Rare Dis 2:33
9. EUROCAT (2012) European surveillance of congenital anomalies (Internet). Co Antrim, Northern Ireland. Available from: http://www.eurocat-network.eu
10. ICBDSR (2012) International clearinghouse birth defects surveillance and research (Internet). Rome, Italy. Available from: http://www.icbdsr.org
11. Rittler M, Paz JE, Castilla EE (1996) VACTERL association, epidemiologic definition and delineation. Am J Med Genet 63:529-536