TY - JOUR
T1 - Report of a new syndrome
T2 - Focus on differential diagnosis and review of Ellis-van Creveld, Curry-Hall, acrofacial dysostosis, and orofacial digital syndromes
AU - Ghosh, Sujoy
AU - Setty, Suhas
AU - Sivakumar, A.
AU - Pai, Keerthilatha M.
PY - 2007/5/1
Y1 - 2007/5/1
N2 - 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.
AB - 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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U2 - 10.1016/j.tripleo.2006.02.028
DO - 10.1016/j.tripleo.2006.02.028
M3 - Article
C2 - 17466885
AN - SCOPUS:34247344499
SN - 1079-2104
VL - 103
SP - 670
EP - 676
JO - Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontology
JF - Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontology
IS - 5
ER -