Dentinogenesis imperfecta associated with short stature, hearing loss and mental retardation: a new syndrome with autosomal recessive inheritance?
| Autor: | Luc Martens, R. G. E. C. Cauwels, Geert Mortier, P. J. De Coster, Luc Marks |
|---|---|
| Rok vydání: | 2005 |
| Předmět: |
Male
Cancer Research Pediatrics medicine.medical_specialty Hearing loss Dentinogenesis imperfecta Genes Recessive Consanguinity Audiology Short stature Pathology and Forensic Medicine stomatognathic system Dentinogenesis Imperfecta Intellectual Disability medicine Humans Child Hearing Loss Proportionate short stature business.industry Syndrome medicine.disease Body Height Radiography stomatognathic diseases Otorhinolaryngology Osteogenesis imperfecta Child Preschool Dentinogenesis Periodontics Sensorineural hearing loss Oral Surgery medicine.symptom business |
| Zdroj: | Journal of oral pathologymedicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology. 34(7) |
| ISSN: | 0904-2512 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text