Literature DB >> 10066030

Lower extremity counterpart of the Poland syndrome.

M Silengo1, M Lerone, M Seri, P Boffi.   

Abstract

Below-the-knee right leg hypoplasia and ipsilateral toe brachysyndactyly were observed in a 4-year-old female with an otherwise normal phenotype. Electromyographic and nerve conduction studies were normal. The Doppler evaluation was consistent with a 50% reduction in the blood supply from the femoral artery, suggesting vascular disruption as the pathogenic mechanism. Our observations support the hypothesis that a lower extremity counterpart of the Poland syndrome does exist and that the extent of limb involvement is dependent on the level of vascular disruption.

Entities:  

Mesh:

Year:  1999        PMID: 10066030     DOI: 10.1034/j.1399-0004.1999.550107.x

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


  1 in total

1.  Assessment of copy number variations in 120 patients with Poland syndrome.

Authors:  Carlotta Maria Vaccari; Elisa Tassano; Michele Torre; Stefania Gimelli; Maria Teresa Divizia; Maria Victoria Romanini; Simone Bossi; Ilaria Musante; Maura Valle; Filippo Senes; Nunzio Catena; Maria Francesca Bedeschi; Anwar Baban; Maria Grazia Calevo; Massimo Acquaviva; Margherita Lerone; Roberto Ravazzolo; Aldamaria Puliti
Journal:  BMC Med Genet       Date:  2016-11-25       Impact factor: 2.103

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.