کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
9996762 | 1583425 | 2005 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Case report of a rare syndrome associating amelogenesis imperfecta and nephrocalcinosis in a consanguineous family
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موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
دندانپزشکی، جراحی دهان و پزشکی
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چکیده انگلیسی
A rare syndrome associating amelogenesis imperfecta (AI) with nephrocalcinosis has been reported. The purpose of this study is to characterise the phenotype of a consanguineous family presenting amelogenesis imperfecta, delayed permanent teeth eruption and nephrocalcinosis. Six family members were examined. Ground sections of the case index deciduous teeth and biopsies of enlarged dental follicles were analysed. The patients's parents were first cousins. The case index had yellow discoloration and altered teeth shapes, retention of deciduous teeth, and delayed eruption. Panoramic radiographs revealed multiple enlarged pericoronal follicles in unerupted teeth and generalised intrapulpal calcifications. Renal ultrasound showed the presence of nephrocalcinosis. No other family members presented enamel defects or nephrocalcinosis. Histologically, the enamel appeared hypoplastic, and dental follicles indicated pericoronal hamartoma. The consanguineous marriage suggests an autosomal recessive mode of inheritance. Further studies are necessary to clarify the genetic defect behind this syndrome that associates AI, nephrocalcinosis and impaired tooth eruption.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Archives of Oral Biology - Volume 50, Issue 2, February 2005, Pages 237-242
Journal: Archives of Oral Biology - Volume 50, Issue 2, February 2005, Pages 237-242
نویسندگان
L.M. Paula, N.S. Melo, E.N. Silva Guerra, D.H. Mestrinho, A.C. Acevedo,