Literature DB >> 17466885

Report of a new syndrome: focus on differential diagnosis and review of Ellis-van Creveld, Curry-Hall, acrofacial dysostosis, and orofacial digital syndromes.

Sujoy Ghosh1, Suhas Setty, A Sivakumar, Keerthilatha M Pai.   

Abstract

Ellis-van Creveld (EvC) and Curry-Hall (CH) syndromes are rare syndromes that occur due to mutations of genes mapped to the chromosome 4p16 region. Hence, they both have few features that are common. The dental literature describing the oral manifestations and etiology of both syndromes is scarce. We report a case of a 7-year-old girl who appeared with features that are common to both syndromes, as well as with other features such as reduced cranial base flexure and toes of equal length with skeletal changes that have not been mentioned or described in earlier reports. The patient possibly represents a new syndromic entity that has not been reported until now. Further, we present a review of various other similar syndromes, such as various types of orofacial digital (OFD) syndrome and acrofacial dysostosis.

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Year:  2006        PMID: 17466885     DOI: 10.1016/j.tripleo.2006.02.028

Source DB:  PubMed          Journal:  Oral Surg Oral Med Oral Pathol Oral Radiol Endod        ISSN: 1079-2104


  5 in total

1.  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

2.  Report of Two Siblings with Overlapping Features of Ellis-van Creveld and Weyers Acrodental Dysostosis.

Authors:  Devi C Shetty; Harkanwal P Singh; Prince Kumar; Chanchal Verma
Journal:  J Clin Imaging Sci       Date:  2012-04-28

3.  Medical genetics and genomic medicine in India: current status and opportunities ahead.

Authors:  Shagun Aggarwal; Shubha R Phadke
Journal:  Mol Genet Genomic Med       Date:  2015-05       Impact factor: 2.183

Review 4.  A review of skeletal dysplasia research in India.

Authors:  A Uttarilli; H Shah; A Shukla; K M Girisha
Journal:  J Postgrad Med       Date:  2018 Apr-Jun       Impact factor: 1.476

5.  Taurodontism in dental genetics.

Authors:  Manogari Chetty; Imaan A Roomaney; Peter Beighton
Journal:  BDJ Open       Date:  2021-07-09
  5 in total

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