Displasia cleidocraniana: revisão e estudo das características clínicas e radiográficas de uma família chilena
Cleidocranial Dysplasia (CDD) is a rare syndrome usually caused by an autosomical dominant gene with high penetrance and variable degree of expressions. This condition is usually caused by a mutation of the Core Binging Factor-1 gene, located at chromosome 6p21. This gene encodes a protein necessar...
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Asociación Latinoamericana de Odontopediatría
2011-01-01
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| Series: | Revista de Odontopediatria Latinoamericana |
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| Online Access: | http://www.revistaodontopediatria.org/ediciones/2011/1/art-13/ |
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| author | Alejandra Castro Araya Enrico Escobar López Gloria García Moreno |
| author_facet | Alejandra Castro Araya Enrico Escobar López Gloria García Moreno |
| author_sort | Alejandra Castro Araya |
| collection | DOAJ |
| description | Cleidocranial Dysplasia (CDD) is a rare syndrome usually caused by an autosomical dominant gene with high penetrance and variable degree of expressions. This condition is usually caused by a mutation of the Core Binging Factor-1 gene, located at chromosome 6p21. This gene encodes a protein necessary for the correct functioning of osteoblast cells, however, 40% of cases of CDD appear spontaneously with no apparent genetic cause. CDD Primarily affecting bones undergoing intramembranous ossification characterized by clavicular aplasia or hypoplasia, retarded cranial ossification, multiple impacted permanent teeth, supernumerary teeth, short stature, delayed closure of the sagittal fontanelles and a variety of other skeletal abnormalities. A family case of CDD is presented. A mother and two children were referred to the Oral Pathology Service of the University of Chile. In all three cases, a radiological series was performed over the entire body. Generalized dysplasia in bones (clavicular aplasia), prolonged retention of primary teeth and delayed eruption of permanent, as well as supernumerary teeth was diagnosed. Clinical and Radiological findings are presented. |
| format | Article |
| id | doaj-art-d9054fad564e48a981d28d78f2e2b7c4 |
| institution | Kabale University |
| issn | 2174-0798 2174-0798 |
| language | English |
| publishDate | 2011-01-01 |
| publisher | Asociación Latinoamericana de Odontopediatría |
| record_format | Article |
| series | Revista de Odontopediatria Latinoamericana |
| spelling | doaj-art-d9054fad564e48a981d28d78f2e2b7c42025-01-02T08:59:49ZengAsociación Latinoamericana de OdontopediatríaRevista de Odontopediatria Latinoamericana2174-07982174-07982011-01-01118892Displasia cleidocraniana: revisão e estudo das características clínicas e radiográficas de uma família chilenaAlejandra Castro Araya0Enrico Escobar López1Gloria García Moreno2Departamento de Patología, Facultad de Odontología, Universidad de ChileInstituto de Referencia de Patología Oral (IREPO), Facultad de Odontología, Universidad de Chile.Hospital San José, Consultorio Maruri, Región Metropolitana, Santiago de Chile.Cleidocranial Dysplasia (CDD) is a rare syndrome usually caused by an autosomical dominant gene with high penetrance and variable degree of expressions. This condition is usually caused by a mutation of the Core Binging Factor-1 gene, located at chromosome 6p21. This gene encodes a protein necessary for the correct functioning of osteoblast cells, however, 40% of cases of CDD appear spontaneously with no apparent genetic cause. CDD Primarily affecting bones undergoing intramembranous ossification characterized by clavicular aplasia or hypoplasia, retarded cranial ossification, multiple impacted permanent teeth, supernumerary teeth, short stature, delayed closure of the sagittal fontanelles and a variety of other skeletal abnormalities. A family case of CDD is presented. A mother and two children were referred to the Oral Pathology Service of the University of Chile. In all three cases, a radiological series was performed over the entire body. Generalized dysplasia in bones (clavicular aplasia), prolonged retention of primary teeth and delayed eruption of permanent, as well as supernumerary teeth was diagnosed. Clinical and Radiological findings are presented.http://www.revistaodontopediatria.org/ediciones/2011/1/art-13/Cleidocranial Dysplasiaclavicular aplasia or hypoplasiasupernumerary teethskeletal abnormalities |
| spellingShingle | Alejandra Castro Araya Enrico Escobar López Gloria García Moreno Displasia cleidocraniana: revisão e estudo das características clínicas e radiográficas de uma família chilena Revista de Odontopediatria Latinoamericana Cleidocranial Dysplasia clavicular aplasia or hypoplasia supernumerary teeth skeletal abnormalities |
| title | Displasia cleidocraniana: revisão e estudo das características clínicas e radiográficas de uma família chilena |
| title_full | Displasia cleidocraniana: revisão e estudo das características clínicas e radiográficas de uma família chilena |
| title_fullStr | Displasia cleidocraniana: revisão e estudo das características clínicas e radiográficas de uma família chilena |
| title_full_unstemmed | Displasia cleidocraniana: revisão e estudo das características clínicas e radiográficas de uma família chilena |
| title_short | Displasia cleidocraniana: revisão e estudo das características clínicas e radiográficas de uma família chilena |
| title_sort | displasia cleidocraniana revisao e estudo das caracteristicas clinicas e radiograficas de uma familia chilena |
| topic | Cleidocranial Dysplasia clavicular aplasia or hypoplasia supernumerary teeth skeletal abnormalities |
| url | http://www.revistaodontopediatria.org/ediciones/2011/1/art-13/ |
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