Literature DB >> 1544210

A boy with Poland anomaly and facio-auriculo-vertebral dysplasia.

J M Cobben1, A J van Essen, P C McParland, H A Polman, L P ten Kate.   

Abstract

Poland anomaly and facio-auriculo-vertebral dysplasia are considered to be separate entities. We describe a 3-year-old boy with features of both Poland anomaly and facio-auriculo-vertebral dysplasia. This is the first report, to our knowledge, of this combination of birth defects. Possible pathogenetic implications are discussed.

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Year:  1992        PMID： 1544210     DOI： 10.1111/j.1399-0004.1992.tb03643.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  2 in total

Review 1.  Acro-pectoro-renal field defect.

Authors:  Hardally R Hegde; Alexander K C Leung
Journal:  Pediatr Nephrol       Date:  2003-02-25       Impact factor: 3.714

Review 2.  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
  2 in total

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