Report of a new syndrome

Focus on differential diagnosis and review of Ellis-van Creveld, Curry-Hall, acrofacial dysostosis, and orofacial digital syndromes

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

Research output: Contribution to journalArticle

12 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)670-676
Number of pages7
JournalOral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontology
Volume103
Issue number5
DOIs
Publication statusPublished - 01-05-2007

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Dysostoses
Differential Diagnosis
Oral Manifestations
Skull Base
Toes
Tooth
Chromosomes
Mutation
Genes

All Science Journal Classification (ASJC) codes

  • Surgery
  • Oral Surgery
  • Otorhinolaryngology
  • Dentistry(all)

Cite this

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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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