کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2814126 1569510 2012 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Oral manifestations of patients with Kenny–Caffey Syndrome
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
Oral manifestations of patients with Kenny–Caffey Syndrome
چکیده انگلیسی

Kenny–Caffey syndrome (KCS) is a rare osteosclerotic bone dysplasia characterized by hypocalcemia, short stature, ophthalmological features, and teeth anomalies. The TBCE gene coding for a tubulin-specific chaperone E, is located at chromosome 1q42-q43, and is responsible for the recessive form. After reviewing the literature, we found around 60 cases, however with limited dental data. In this article 5 new individuals with KCS, are described focusing on oral findings. All cases had short roots and showed dental anomalies as hypo/oligodontia, microdontia. Dental anomalies are a constant feature in KCS, further study is required to better delineate the syndrome.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 55, Issues 8–9, August–September 2012, Pages 441–445
نویسندگان
, , , , , , , ,