Literature DB >> 887831

Ellis-van Creveld syndrome. An inbred kindred with five cases.

A Waldrigues, L C Grohmann, T Takahashi, H M Reis.   

Abstract

Five additional cases of a kindred with inbred Ellis-van Creveld syndrome are reported. Ectodermal dysplasia polydactyly, chondroectodermal dysplasia and possibly congenital heart diseases were present in all our cases. Cephalometric radiographs from one patient showed an enlargement of the mentum-groove-labial distance. The diagnosis of two individuals was performed by clinical and radiological examinations. An autosomal recessive mode of inheritance is strongly suggested by their pedigree.

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Year:  1977        PMID: 887831

Source DB:  PubMed          Journal:  Rev Bras Pesqui Med Biol        ISSN: 0034-7310


  3 in total

1.  Ellis-van Creveld syndrome: report of 15 cases in an inbred kindred.

Authors:  E O da Silva; D Janovitz; S C de Albuquerque
Journal:  J Med Genet       Date:  1980-10       Impact factor: 6.318

2.  Ellis Van Creveld2 is Required for Postnatal Craniofacial Bone Development.

Authors:  Mohammed K Badri; Honghao Zhang; Yoshio Ohyama; Sundharamani Venkitapathi; Nobuhiro Kamiya; Haruko Takeda; Manas Ray; Greg Scott; Takehito Tsuji; Tetsuo Kunieda; Yuji Mishina; Yoshiyuki Mochida
Journal:  Anat Rec (Hoboken)       Date:  2016-05-02       Impact factor: 2.064

Review 3.  Ellis-van Creveld syndrome.

Authors:  Geneviève Baujat; Martine Le Merrer
Journal:  Orphanet J Rare Dis       Date:  2007-06-04       Impact factor: 4.123

  3 in total

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