کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3169386 1586356 2007 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Clinical and imaging correlations of Treacher Collins syndrome: Report of two cases
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی دندانپزشکی، جراحی دهان و پزشکی
پیش نمایش صفحه اول مقاله
Clinical and imaging correlations of Treacher Collins syndrome: Report of two cases
چکیده انگلیسی

Mandibulofacial dysostosis (Treacher Collins Syndrome) is an autosomal dominant genetic disorder that probably derives from inhibition of the facial structures from the first and second branchial arches. The facial pattern of the syndrome is a convex facial profile with a prominent nose above a retruded chin. The eyes are deformed by antimongoloid slant of the palpebral fissures and facial bones are hypoplastic. The alterations are caused by mutation in gene 5q32-33.1, which encodes the nucleolar phosphoprotein treacle. Computed tomography images are able to demonstrate craniofacial bones, allowing the morphological analysis of these bones in individuals with complex deformities. The purpose of this paper is to present the results of a clinical and computed tomography investigation of two patients with Treacher Collins syndrome.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology - Volume 103, Issue 6, June 2007, Pages 836–842
نویسندگان
, , , ,