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

被引:18
作者
Ghosh, Sujoy [1 ]
Setty, Suhas
Sivakumar, A.
Pai, Keerthilatha M.
机构
[1] Coll Dent Sci, Dept Oral Med & Radiol, Manipal, Karnataka, India
[2] Coll Dent Sci, Manipal, Karnataka, India
[3] Coll Dent Sci, Dept Oral Med & Radiol, Manipal, Karnataka, India
[4] Coll Dent Sci, Dept Orthodont, Manipal, Karnataka, India
来源
ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY AND ENDODONTOLOGY | 2007年 / 103卷 / 05期
关键词
D O I
10.1016/j.tripleo.2006.02.028
中图分类号
R78 [口腔科学];
学科分类号
1003 ;
摘要
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.
引用
收藏
页码:670 / 676
页数:7
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