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Dentinogenesis imperfecta associated with short stature, hearing loss and mental retardation: a new syndrome with autosomal recessive inheritance?
Author(s) -
Cauwels R. G. E. C.,
De Coster P. J.,
Mortier G. R.,
Marks L. A. M.,
Martens L. C.
Publication year - 2005
Publication title -
journal of oral pathology and medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.887
H-Index - 83
eISSN - 1600-0714
pISSN - 0904-2512
DOI - 10.1111/j.1600-0714.2005.00318.x
Subject(s) - dentinogenesis imperfecta , short stature , medicine , hearing loss , osteogenesis imperfecta , genetic heterogeneity , autosomal recessive inheritance , genetics , phenotype , pediatrics , pathology , biology , audiology , gene
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.