Literature DB >> 2012136

Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome.

V M Der Kaloustian1, H E Hoyme, H Hogg, M A Entin, A E Guttmacher.   

Abstract

We report on 2 families having members affected with the Poland sequence and Adams-Oliver syndrome. In the first family, a 5-month-old boy presented with Adams-Oliver syndrome; his mother had Poland sequence. In the second family, a 12-year-old boy and his mother presented with findings suggestive of Adams-Oliver syndrome and Poland sequence. This suggests that the same genetic predisposition may result in either or both conditions.

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Year:  1991        PMID: 2012136     DOI: 10.1002/ajmg.1320380116

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  8 in total

1.  Adams-Oliver Syndrome. A case with isolated aplasia cutis congenita and skeletal defects.

Authors:  Ola Bakry; Abdalla Attia; Eman Nabil El Shafey
Journal:  J Dermatol Case Rep       Date:  2012-03-27

2.  Poland's syndrome: report of a variant.

Authors:  Jacob Ndas Legbo
Journal:  J Natl Med Assoc       Date:  2006-01       Impact factor: 1.798

3.  Multiple cavernous malformations presenting in a patient with Poland syndrome: A case report.

Authors:  Karlo J Lizarraga; Antonio Af De Salles
Journal:  J Med Case Rep       Date:  2011-09-20

4.  Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family.

Authors:  Alessandra D'Amico; Daniela Melis; Felice D'Arco; Nilde Di Paolo; Barbara Carotenuto; Gennaro D'Anna; Carmela Russo; Pasquale Boemio; Arturo Brunetti
Journal:  Pol J Radiol       Date:  2013-11-19

5.  Genetic Overview of Syndactyly and Polydactyly.

Authors:  Humayun Ahmed; Hossein Akbari; Abdolhasan Emami; Mohammad R Akbari
Journal:  Plast Reconstr Surg Glob Open       Date:  2017-11-02

6.  Adams Oliver syndrome: A mimicker of familial exudative vitreoretinopathy.

Authors:  Alwaleed M Alsulaiman; Hamad M Alsulaiman; Ahmad Almousa; Sulaiman M Alsulaiman
Journal:  Am J Ophthalmol Case Rep       Date:  2020-04-22

7.  A Case of Adams-Oliver Syndrome.

Authors:  Minoo Saeidi; Fahime Ehsanipoor
Journal:  Adv Biomed Res       Date:  2017-12-28

Review 8.  Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence).

Authors:  Ilaria Baldelli; Alessio Baccarani; Chiara Barone; Francesca Bedeschi; Sebastiano Bianca; Olga Calabrese; Marco Castori; Nunzio Catena; Massimo Corain; Sara Costanzo; Giacomo De Paoli Barbato; Santa De Stefano; Maria Teresa Divizia; Francesco Feletti; Matteo Formica; Mario Lando; Margherita Lerone; Fulvio Lorenzetti; Carlo Martinoli; Lorenzo Mellini; Maurizio Bruno Nava; Giuseppe Porcellini; Aldamaria Puliti; Maria Victoria Romanini; Franco Rondoni; Pierluigi Santi; Silvana Sartini; Filippo Senes; Lucia Spada; Luigi Tarani; Maura Valle; Cristina Venturino; Federico Zaottini; Michele Torre; Marco Crimi
Journal:  Orphanet J Rare Dis       Date:  2020-08-05       Impact factor: 4.123

  8 in total

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