Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Bhargava, P, Khan, S, Sharma, R, Bhargava, S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
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
_version_ 1782332195210264576
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
work_keys_str_mv AT bhargavap cleidocranialdysplasiawithautosomaldominantinheritancepattern
AT khans cleidocranialdysplasiawithautosomaldominantinheritancepattern
AT sharmar cleidocranialdysplasiawithautosomaldominantinheritancepattern
AT bhargavas cleidocranialdysplasiawithautosomaldominantinheritancepattern