Title
Dentinogenesis imperfecta associated with short stature, hearing loss and mental retardation : a new syndrome with autosomal recessive inheritance? Dentinogenesis imperfecta associated with short stature, hearing loss and mental retardation : a new syndrome with autosomal recessive inheritance?
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
KÝbenhavn ,
Subject
Human medicine
Source (journal)
Journal of oral pathology and medicine. - KÝbenhavn
Volume/pages
34(2005) :7 , p. 444-446
ISSN
0904-2512
ISI
000230288100011
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
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.
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