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Cleidocranial Dysplasia with Autosomal Dominant Inheritance Pattern
Cleidocranial dysplasia (CCD) is an autosomal dominant disease with a wide range of expression, characterized by clavicular hypoplasia, retarded cranial ossification, delayed bone and teeth development, supernumerary teeth, stomatognathic, craniofacial and skeletal abnormalities. This paper presents...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4145514/ https://www.ncbi.nlm.nih.gov/pubmed/25184084 http://dx.doi.org/10.4103/2141-9248.138042 |
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author | Bhargava, P Khan, S Sharma, R Bhargava, S |
author_facet | Bhargava, P Khan, S Sharma, R Bhargava, S |
author_sort | Bhargava, P |
collection | PubMed |
description | Cleidocranial dysplasia (CCD) is an autosomal dominant disease with a wide range of expression, characterized by clavicular hypoplasia, retarded cranial ossification, delayed bone and teeth development, supernumerary teeth, stomatognathic, craniofacial and skeletal abnormalities. This paper presents a case of CCD in a female with brachycephalic skull, depressed frontal bone and nasal bridge, hypoplastic middle one-third of face with mandibular prognathism and hyper mobility of both shoulders with associated radiographic features. Odontologist is often the first professional who patient of CCD approaches, since there is a delay in the eruption or absence of permanent teeth. The premature diagnosis allows a scope for proper treatment modalities, offering a better life quality for patient. |
format | Online Article Text |
id | pubmed-4145514 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-41455142014-09-02 Cleidocranial Dysplasia with Autosomal Dominant Inheritance Pattern Bhargava, P Khan, S Sharma, R Bhargava, S Ann Med Health Sci Res Case Report Cleidocranial dysplasia (CCD) is an autosomal dominant disease with a wide range of expression, characterized by clavicular hypoplasia, retarded cranial ossification, delayed bone and teeth development, supernumerary teeth, stomatognathic, craniofacial and skeletal abnormalities. This paper presents a case of CCD in a female with brachycephalic skull, depressed frontal bone and nasal bridge, hypoplastic middle one-third of face with mandibular prognathism and hyper mobility of both shoulders with associated radiographic features. Odontologist is often the first professional who patient of CCD approaches, since there is a delay in the eruption or absence of permanent teeth. The premature diagnosis allows a scope for proper treatment modalities, offering a better life quality for patient. Medknow Publications & Media Pvt Ltd 2014 /pmc/articles/PMC4145514/ /pubmed/25184084 http://dx.doi.org/10.4103/2141-9248.138042 Text en Copyright: © Annals of Medical and Health Sciences Research http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Bhargava, P Khan, S Sharma, R Bhargava, S Cleidocranial Dysplasia with Autosomal Dominant Inheritance Pattern |
title | Cleidocranial Dysplasia with Autosomal Dominant Inheritance Pattern |
title_full | Cleidocranial Dysplasia with Autosomal Dominant Inheritance Pattern |
title_fullStr | Cleidocranial Dysplasia with Autosomal Dominant Inheritance Pattern |
title_full_unstemmed | Cleidocranial Dysplasia with Autosomal Dominant Inheritance Pattern |
title_short | Cleidocranial Dysplasia with Autosomal Dominant Inheritance Pattern |
title_sort | cleidocranial dysplasia with autosomal dominant inheritance pattern |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4145514/ https://www.ncbi.nlm.nih.gov/pubmed/25184084 http://dx.doi.org/10.4103/2141-9248.138042 |
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