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

• 发表时间: May 2007
• 来源期刊: Oral Surg Oral Med Oral Pathol Oral Radiol Endod
• DOI: 10.1016/j.tripleo.2006.02.028
• PMID: 17466885
• 文章类型: Case Reports
• 方向: 医学
• 作者列表: Ghosh S,Setty S,Sivakumar A,Pai KM

Mesh: Abnormalities, Multiple / pathology; Cephalometry; Child; Craniofacial Dysostosis / pathology; Diagnosis, Differential; Dwarfism / pathology; Ellis-Van Creveld Syndrome / pathology; Female; Foot Deformities, Congenital / pathology; Hand Deformities, Congenital / pathology; Humans; Nails, Malformed / pathology; Orofaciodigital Syndromes / pathology; Prognathism / pathology; Skull Base / abnormalities; Syndrome; Tooth Abnormalities / pathology

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.