Publication
Title
Dentinogenesis imperfecta associated with short stature, hearing loss and mental retardation : a new syndrome with autosomal recessive inheritance?
Author
Abstract
The follow-up history and oral findings in two brothers from consanguineous parents suggest that the association of dentinogenesis imperfecta (DI), delayed tooth eruption, mild mental retardation, proportionate short stature, sensorineural hearing loss and dysmorphic facies may represent a new syndrome with autosomal recessive inheritance. Histological examination of the dentin matrix of a permanent molar from one of the siblings reveals morphological similarities with defective dentinogenesis as presenting in patients affected with Osteogenesis Imperfecta (OI), a condition caused by deficiency of type I collagen. A number of radiographic and histological characteristics, however, are inconsistent with classical features of DI. These findings suggest that DI may imply greater genetical heterogeneity than currently assumed.
Language
English
Source (journal)
Journal of oral pathology and medicine. - København
Publication
København : 2005
ISSN
0904-2512
Volume/pages
34:7(2005), p. 444-446
ISI
000230288100011
Full text (Publisher's DOI)
UAntwerpen
Faculty/Department
Publication type
Subject
External links
Web of Science
Record
Identification
Creation 05.06.2012
Last edited 15.07.2017