Literature DB >> 8849132

[The Adams-Oliver syndrome in Spain: the epidemiological aspects].

M L Martínez-Frías1, I Arroyo Carrera, N J Muñoz-Delgado, C Nieto Conde, E Rodríguez-Pinilla, M Urioste Azcorra, F Omeñaca Teres, A García Alix.   

Abstract

Adams and Oliver (1945) described a family with several affected individuals with terminal transverse limb reduction defects and aplasia cutis congenita of the scalp. The clinical expression was highly variable and the pattern showed a family transmission compatible with an autosomal dominant condition. Since the first description, many cases have been published with this pattern of anomalies being known as Adams-Oliver syndrome. Here we present five affected patients ascertained among the 21,835 malformed infants registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC). Epidemiological aspects and clinical features of the patients are presented and compared with data from the literature.

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Mesh:

Year:  1996        PMID: 8849132

Source DB:  PubMed          Journal:  An Esp Pediatr        ISSN: 0302-4342


  7 in total

Review 1.  Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.

Authors:  Mary Ella Pierpont; Martina Brueckner; Wendy K Chung; Vidu Garg; Ronald V Lacro; Amy L McGuire; Seema Mital; James R Priest; William T Pu; Amy Roberts; Stephanie M Ware; Bruce D Gelb; Mark W Russell
Journal:  Circulation       Date:  2018-11-20       Impact factor: 29.690

2.  Mutations in NOTCH1 cause Adams-Oliver syndrome.

Authors:  Anna-Barbara Stittrich; Anna Lehman; Dale L Bodian; Justin Ashworth; Zheyuan Zong; Hong Li; Patricia Lam; Alina Khromykh; Ramaswamy K Iyer; Joseph G Vockley; Rajiv Baveja; Ermelinda Santos Silva; Joanne Dixon; Eyby L Leon; Benjamin D Solomon; Gustavo Glusman; John E Niederhuber; Jared C Roach; Millan S Patel
Journal:  Am J Hum Genet       Date:  2014-08-14       Impact factor: 11.025

3.  Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations.

Authors:  Anna Lehman; Anna-Barbara Stittrich; Gustavo Glusman; Zheyuan Zong; Hong Li; Patrice Eydoux; Christof Senger; Christopher Lyons; Jared C Roach; Millan Patel
Journal:  Am J Med Genet A       Date:  2014-08-04       Impact factor: 2.802

4.  RBPJ mutations identified in two families affected by Adams-Oliver syndrome.

Authors:  Susan J Hassed; Graham B Wiley; Shaofeng Wang; Ji-Yun Lee; Shibo Li; Weihong Xu; Zhizhuang J Zhao; John J Mulvihill; James Robertson; James Warner; Patrick M Gaffney
Journal:  Am J Hum Genet       Date:  2012-08-10       Impact factor: 11.025

5.  Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.

Authors:  Rajiv D Machado; Richard C Trembath; Laura Southgate; Maja Sukalo; Anastasios S V Karountzos; Edward J Taylor; Claire S Collinson; Deborah Ruddy; Katie M Snape; Bruno Dallapiccola; John L Tolmie; Shelagh Joss; Francesco Brancati; M Cristina Digilio; Luitgard M Graul-Neumann; Leonardo Salviati; Wiltrud Coerdt; Emmanuel Jacquemin; Wim Wuyts; Martin Zenker
Journal:  Circ Cardiovasc Genet       Date:  2015-05-11

6.  Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.

Authors:  Josephina A N Meester; Maja Sukalo; Kim C Schröder; Denny Schanze; Gareth Baynam; Guntram Borck; Nuria C Bramswig; Duygu Duman; Brigitte Gilbert-Dussardier; Muriel Holder-Espinasse; Peter Itin; Diana S Johnson; Shelagh Joss; Hannele Koillinen; Fiona McKenzie; Jenny Morton; Heike Nelle; Willie Reardon; Claudia Roll; Mustafa A Salih; Ravi Savarirayan; Ingrid Scurr; Miranda Splitt; Elizabeth Thompson; Hannah Titheradge; Colm P Travers; Lionel Van Maldergem; Margo Whiteford; Dagmar Wieczorek; Geert Vandeweyer; Richard Trembath; Lut Van Laer; Bart L Loeys; Martin Zenker; Laura Southgate; Wim Wuyts
Journal:  Hum Mutat       Date:  2018-07-04       Impact factor: 4.878

Review 7.  Case report and review of literature of a rare congenital disorder: Adams-Oliver syndrome.

Authors:  Edwin Suarez; Mia J Bertoli; Jean Daniel Eloy; Shridevi Pandya Shah
Journal:  BMC Anesthesiol       Date:  2021-04-15       Impact factor: 2.217

  7 in total

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