Literature DB >> 30580478

The etiology of VACTERL association: Current knowledge and hypotheses.

Benjamin D Solomon1.   

Abstract

VACTERL association is a condition involving the presence of multiple congenital anomalies. The condition was first described more than four decades ago, and is not extremely rare. However, relatively little is understood about the causes and underlying biology of the condition as a whole. There are many reasons for this, but there is increasing recognition that VACTERL is extremely clinically as well as etiologically heterogeneous, and this heterogeneity--as well as other hypothesized factors--have caused challenges to identifying the causes for a substantial proportion of patients. Current knowledge about the causes of this condition (or group of conditions) are described, followed by a discussion of possibilities that may reveal more answers for patients as well as researchers and clinicians who work related to this disorder.
© 2018 Wiley Periodicals, Inc.

Entities:  

Keywords:  VACTERL; VACTERL association; VATER; VATER association

Mesh:

Year:  2018        PMID: 30580478     DOI: 10.1002/ajmg.c.31664

Source DB:  PubMed          Journal:  Am J Med Genet C Semin Med Genet        ISSN: 1552-4868            Impact factor:   3.908


  11 in total

1.  Spinal dysraphism as a new entity in V.A.C.TE.R.L syndrome, resulting in a novel acronym V.A.C.TE.R.L.S.

Authors:  Aymeric Amelot; Célia Cretolle; Timothée de Saint Denis; Sabine Sarnacki; Martin Catala; Michel Zerah
Journal:  Eur J Pediatr       Date:  2020-02-13       Impact factor: 3.183

2.  Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association.

Authors:  Olga M Moreno; Ana I Sánchez; Angélica Herreño; Gustavo Giraldo; Fernando Suárez; Juan Carlos Prieto; Ana Shaia Clavijo; Mercedes Olaya; Yaris Vargas; Javier Benítez; Jordi Surallés; Adriana Rojas
Journal:  Mol Syndromol       Date:  2020-11-11

3.  Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.

Authors:  Ella M M A Martin; Annabelle Enriquez; Duncan B Sparrow; David T Humphreys; Aideen M McInerney-Leo; Paul J Leo; Emma L Duncan; Kavitha R Iyer; Joelene A Greasby; Eddie Ip; Eleni Giannoulatou; Delicia Sheng; Elizabeth Wohler; Clémantine Dimartino; Jeanne Amiel; Yline Capri; Daphné Lehalle; Adi Mory; Yael Wilnai; Yael Lebenthal; Ali G Gharavi; Grażyna G Krzemień; Monika Miklaszewska; Robert D Steiner; Cathy Raggio; Robert Blank; Hagit Baris Feldman; Hila Milo Rasouly; Nara L M Sobreira; Rebekah Jobling; Christopher T Gordon; Philip F Giampietro; Sally L Dunwoodie; Gavin Chapman
Journal:  Hum Mol Genet       Date:  2020-12-04       Impact factor: 6.150

4.  Patterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights.

Authors:  Meredith M Howley; Eva Williford; A J Agopian; Angela E Lin; Lorenzo D Botto; Christopher M Cunniff; Paul A Romitti; Eirini Nestoridi; Marilyn L Browne
Journal:  Birth Defects Res       Date:  2022-03-11       Impact factor: 2.661

5.  Maternal risk factors for the VACTERL association: A EUROCAT case-control study.

Authors:  Romy van de Putte; Iris A L M van Rooij; Cynthia P Haanappel; Carlo L M Marcelis; Han G Brunner; Marie-Claude Addor; Clara Cavero-Carbonell; Carlos M Dias; Elizabeth S Draper; Larraitz Etxebarriarteun; Miriam Gatt; Babak Khoshnood; Agnieszka Kinsner-Ovaskainen; Kari Klungsoyr; Jenny J Kurinczuk; Anna Latos-Bielenska; Karen Luyt; Mary T O'Mahony; Nicola Miller; Carmel Mullaney; Vera Nelen; Amanda J Neville; Isabelle Perthus; Anna Pierini; Hanitra Randrianaivo; Judith Rankin; Anke Rissmann; Florence Rouget; Bruno Schaub; David Tucker; Diana Wellesley; Awi Wiesel; Natalya Zymak-Zakutnia; Maria Loane; Ingeborg Barisic; Hermien E K de Walle; Jorieke E H Bergman; Nel Roeleveld
Journal:  Birth Defects Res       Date:  2020-04-22       Impact factor: 2.344

Review 6.  The embryology of persistent cloaca and urogenital sinus malformations.

Authors:  David F M Thomas
Journal:  Asian J Androl       Date:  2020 Mar-Apr       Impact factor: 3.285

7.  Clinical and epidemiological features of heart-hand syndrome, an updated analysis in China.

Authors:  Yaobin Yin; Jianguang Ji; Junhui Zhao; Shanlin Chen; Wen Tian
Journal:  BMC Musculoskelet Disord       Date:  2020-11-25       Impact factor: 2.362

8.  Discovering Genotype Variants in an Infant with VACTERL through Clinical Exome Sequencing: A Support for Personalized Risk Assessment and Disease Prevention.

Authors:  Gloria Pelizzo; Luigi Chiricosta; Emanuela Mazzon; Gian Vincenzo Zuccotti; Maria Antonietta Avanzini; Stefania Croce; Mario Lima; Placido Bramanti; Valeria Calcaterra
Journal:  Pediatr Rep       Date:  2021-01-05

9.  Right Pulmonary Artery Originating from Ascending Aorta (Hemitruncus Arteriosus) with VACTERL Association in a Neonate: A Case Report.

Authors:  Byeong-Su Shin; Taehong Kim; Hyoung Doo Lee; Hoon Ko; Joung-Hee Byun
Journal:  Children (Basel)       Date:  2022-02-03

10.  Birth defect co-occurrence patterns in the Texas Birth Defects Registry.

Authors:  Philip J Lupo; A J Agopian; Renata H Benjamin; Angela E Scheuerle; Daryl A Scott; Maria Luisa Navarro Sanchez; Peter H Langlois; Mark A Canfield; Hope Northrup; Christian P Schaaf; Joseph W Ray; Scott D McLean; Han Chen; Michael D Swartz
Journal:  Pediatr Res       Date:  2021-06-30       Impact factor: 3.953

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