Literature DB >> 15658624

Report of a girl with Klippel-feil syndrome and Poland anomaly.

M Erol1, H Caksen, O Tan, B Atik, O Unal, D Odabaş.   

Abstract

Report of a girl with Klippel-feil syndrome and Poland anomaly: Klippel-Feil syndrome, consisting of the triad of a short neck, low posterior hairline, and limitation of neck movement, is a congenital anomaly characterized by the fusion of cervical vertebrae, Poland anomaly consists of unilateral aplasia of the chest wall muscles and ipsilateral anomalies of upper extremity. We report a 7-year-old girl with typical findings of Klippel-Feil syndrome and Poland anomaly. To the best of our knowledge a case of Klippel-Feil syndrome and Poland anomaly has not been described before, although a combination of Poland, Klippel-Feil and Moebius anomalies has been reported in the literature.

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Mesh:

Year:  2004        PMID: 15658624

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  2 in total

1.  Klippel - Feil Syndrome Associated with Congential Heart Disease Presentaion of Cases and a Review of the Curent Literature.

Authors:  Ramush Bejiqi; Ragip Retkoceri; Hana Bejiqi; Naim Zeka
Journal:  Open Access Maced J Med Sci       Date:  2015-02-11

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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