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...
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pubmed-41455142014-09-02 Cleidocranial Dysplasia with Autosomal Dominant Inheritance Pattern Bhargava, P Khan, S Sharma, R Bhargava, S 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. |
repository_type |
Open Access Journal |
institution_category |
Foreign Institution |
institution |
US National Center for Biotechnology Information |
building |
NCBI PubMed |
collection |
Online Access |
language |
English |
format |
Online |
author |
Bhargava, P Khan, S Sharma, R Bhargava, S |
spellingShingle |
Bhargava, P Khan, S Sharma, R Bhargava, S Cleidocranial Dysplasia with Autosomal Dominant Inheritance Pattern |
author_facet |
Bhargava, P Khan, S Sharma, R Bhargava, S |
author_sort |
Bhargava, P |
title |
Cleidocranial Dysplasia with Autosomal Dominant Inheritance Pattern |
title_short |
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_sort |
cleidocranial dysplasia with autosomal dominant inheritance pattern |
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. |
publisher |
Medknow Publications & Media Pvt Ltd |
publishDate |
2014 |
url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4145514/ |
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1613128014437023744 |