Literature DB >> 32099300

Cornelia de Lange syndrome: A rare case, presented with unilateral pes equinovarus.

Serkan Erkus1, Ali Turgut1, Burak Onvural1, Onder Kalenderer1.   

Abstract

Cornelia de Lange syndrome is a genetic disorder with multiple system abnormalities. It is especially characterized by typical facial appearance and hirsutism. Growth and mental retardation, gastrointestinal, cardiovascular, and orthopedic abnormalities are other important features of this syndrome. In this case, we present a rare manifestation of Cornelia de Lange syndrome with a unilateral pes equinovarus deformity without other more specific orthopedic manifestations. Ponseti method's was applied as the initial procedure. Afterwards, complete subtalar release was performed. After four years follow-up, clinical and radiological results were satisfactory. Unilateral pes equinovarus deformity may be a part of this syndrome as well as a sporadic presentation. The discrimination is important for anesthetic procedures and surgical outcomes.
© 2019 Delhi Orthopedic Association. All rights reserved.

Entities:  

Keywords:  Congenital deformity; Cornelia de Lange; Pes equino varus

Year:  2019        PMID: 32099300      PMCID: PMC7026540          DOI: 10.1016/j.jcot.2019.04.001

Source DB:  PubMed          Journal:  J Clin Orthop Trauma        ISSN: 0976-5662


  9 in total

Review 1.  Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences.

Authors:  K L Russell; J E Ming; K Patel; L Jukofsky; M Magnusson; I D Krantz
Journal:  Am J Med Genet       Date:  2001-12-15

2.  Genetic and environmental factors in the etiology of talipes equinovarus.

Authors:  R Wynne-Davies
Journal:  Clin Orthop Relat Res       Date:  1972-05       Impact factor: 4.176

3.  de Lange syndrome: a clinical review of 310 individuals.

Authors:  L Jackson; A D Kline; M A Barr; S Koch
Journal:  Am J Med Genet       Date:  1993-11-15

4.  Clinical variability within Brachmann-de Lange syndrome: a proposed classification system.

Authors:  M I Van Allen; G Filippi; J Siegel-Bartelt; S L Yong; B McGillivray; R M Zuker; C R Smith; J F Magee; S Ritchie; A Toi
Journal:  Am J Med Genet       Date:  1993-11-15

5.  Physical growth in Brachmann-de Lange syndrome.

Authors:  B G Kousseff; J Thomson-Meares; P Newkirk; A W Root
Journal:  Am J Med Genet       Date:  1993-11-15

6.  Growth manifestations in the Brachmann-de Lange syndrome.

Authors:  A D Kline; M Barr; L G Jackson
Journal:  Am J Med Genet       Date:  1993-11-15

7.  Orthopaedic manifestations of Brachmann-de Lange syndrome: a report of 34 patients.

Authors:  Andreas Roposch; Atul R Bhaskar; Francis Lee; Sanya Adedapo; Maryline Mousny; Benjamin A Alman
Journal:  J Pediatr Orthop B       Date:  2004-03       Impact factor: 1.041

Review 8.  Cornelia de Lange syndrome, cohesin, and beyond.

Authors:  J Liu; I D Krantz
Journal:  Clin Genet       Date:  2009-10       Impact factor: 4.438

9.  The classic: observations on pathogenesis and treatment of congenital clubfoot. 1972.

Authors:  Ignacio V Ponseti; Jeronimo Campos
Journal:  Clin Orthop Relat Res       Date:  2009-02-14       Impact factor: 4.176

  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.