Literature DB >> 26000085

Ellis-van Creveld Syndrome with Sagittal Craniosynostosis.

Andrew S Fischer1, William M Weathers1, Erik M Wolfswinkel1, Robert J Bollo2, Larry H Hollier1, Edward P Buchanan1.   

Abstract

Ellis-van Creveld syndrome (EVC) is a rare disorder (the incidence is estimated at around 7/1,000,000) characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac anomalies. Sagittal synostosis is characterized by a dolichocephalic head shape resulting from premature fusion of the sagittal suture. Both are rare disorders, which have never been reported together. We present a case of EVC and sagittal synostosis. We report the clinical features of a Hispanic boy with EVC and sagittal craniosynostosis who underwent cranial vault remodeling. The presentation of this patient is gone over in detail. A never before reported case of EVC and sagittal synostosis is presented in detail.

Entities:  

Keywords:  Ellis–van Creveld syndrome; chondroectodermal dysplasia; polydactyly; sagittal craniosynostosis; scaphocephaly

Year:  2014        PMID: 26000085      PMCID: PMC4428735          DOI: 10.1055/s-0034-1393733

Source DB:  PubMed          Journal:  Craniomaxillofac Trauma Reconstr        ISSN: 1943-3875


  13 in total

1.  Ellis-van Creveld syndrome and the Amish.

Authors:  V A McKusick
Journal:  Nat Genet       Date:  2000-03       Impact factor: 38.330

2.  DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME.

Authors:  V A MCKUSICK; J A EGELAND; R ELDRIDGE; D E KRUSEN
Journal:  Bull Johns Hopkins Hosp       Date:  1964-10

3.  A Syndrome Characterized by Ectodermal Dysplasia, Polydactyly, Chondro-Dysplasia and Congenital Morbus Cordis: Report of Three Cases.

Authors:  R W Ellis; S van Creveld
Journal:  Arch Dis Child       Date:  1940       Impact factor: 3.791

4.  Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

Authors:  Stuart W J Tompson; Victor L Ruiz-Perez; Helen J Blair; Stephanie Barton; Victoria Navarro; Joanne L Robson; Michael J Wright; Judith A Goodship
Journal:  Hum Genet       Date:  2006-09-21       Impact factor: 4.132

5.  Cardiac malformations in patients with oral-facial-skeletal syndromes: clinical similarities with heterotaxia.

Authors:  M C Digilio; B Marino; A Ammirati; U Borzaga; A Giannotti; B Dallapiccola
Journal:  Am J Med Genet       Date:  1999-06-04

6.  Differential management of scaphocephaly.

Authors:  Sherard A Tatum; Lamont R Jones; Minji Cho; Ranjit S Sandhu; Ranjit Sandu
Journal:  Laryngoscope       Date:  2012-01-17       Impact factor: 3.325

7.  Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.

Authors:  Victor L Ruiz-Perez; Stuart W J Tompson; Helen J Blair; Cecilia Espinoza-Valdez; Pablo Lapunzina; Elias O Silva; Ben Hamel; John L Gibbs; Ian D Young; Michael J Wright; Judith A Goodship
Journal:  Am J Hum Genet       Date:  2003-02-04       Impact factor: 11.025

Review 8.  Cranioectodermal dysplasia (Sensenbrenner's syndrome).

Authors:  I D Young
Journal:  J Med Genet       Date:  1989-06       Impact factor: 6.318

9.  Sagittal craniosynostosis: surgical outcomes and long-term growth.

Authors:  Jeffrey A Fearon; Emily B McLaughlin; John C Kolar
Journal:  Plast Reconstr Surg       Date:  2006-02       Impact factor: 4.730

Review 10.  The ciliopathies: an emerging class of human genetic disorders.

Authors:  Jose L Badano; Norimasa Mitsuma; Phil L Beales; Nicholas Katsanis
Journal:  Annu Rev Genomics Hum Genet       Date:  2006       Impact factor: 8.929

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  6 in total

1.  Ellis-van Creveld Syndrome in Iran, a Case Report and Review of Disease Cases in Iran, Middle East.

Authors:  Behnam Baghianimoghadam; Aidin Arabzadeh; Yousef Fallah
Journal:  Acta Med Litu       Date:  2021-08-20

2.  Identification of a novel EVC variant in a Han-Chinese family with Ellis-van Creveld syndrome.

Authors:  Xiangjun Huang; Yi Guo; Hongbo Xu; Zhijian Yang; Xiong Deng; Hao Deng; Lamei Yuan
Journal:  Mol Genet Genomic Med       Date:  2019-07-23       Impact factor: 2.183

3.  Ellis-van Creveld syndrome novel pathogenic variant in the EVC2 gene a patient from Turkey.

Authors:  Özden Öztürk; Haydar Bağış; Semih Bolu; Muhammer Özgür Çevik
Journal:  Clin Case Rep       Date:  2021-02-14

4.  An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort.

Authors:  Jieyi Chen; Ping Zhang; Meifang Peng; Bo Liu; Xiao Wang; Siyuan Du; Yao Lu; Xiongzheng Mu; Yulan Lu; Sijia Wang; Yingzhi Wu
Journal:  Front Genet       Date:  2022-09-02       Impact factor: 4.772

5.  Syndromic and Systemic Diagnoses Associated With Isolated Sagittal Synostosis.

Authors:  Amani A Davis; Mostafa M Haredy; Jennifer Huey; Hannah Scanga; Giulio Zuccoli; Ian F Pollack; Mandeep S Tamber; Jesse Goldstein; Suneeta Madan-Khetarpal; Ken K Nischal
Journal:  Plast Reconstr Surg Glob Open       Date:  2019-12-30

Review 6.  Ciliary Signalling and Mechanotransduction in the Pathophysiology of Craniosynostosis.

Authors:  Federica Tiberio; Ornella Parolini; Wanda Lattanzi
Journal:  Genes (Basel)       Date:  2021-07-14       Impact factor: 4.096

  6 in total

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