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| __NOTOC__
| | #redirect [[Cleidocranial dysplasia]] |
| {{Infobox_Disease |
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| Name = {{PAGENAME}} |
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| Image = |
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| Caption = |
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| DiseasesDB = 30594 |
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| ICD10 = {{ICD10|Q|74|0|q|65}} |
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| ICD9 = {{ICD9|755.59}} |
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| ICDO = |
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| OMIM = 119600 |
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| MedlinePlus = 001589 |
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| eMedicineSubj = |
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| eMedicineTopic = |
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| MeshID = D002973 |
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| }}
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| {{SI}}
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| {{CMG}}
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| ==Overview==
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| '''Cleidocranial dysostosis''' or '''Cleidocranial dysplasia''' is a [[hereditary]] [[congenital]] [[abnormality]] of humans due to [[haploinsufficiency]] caused by mutations in the [[CBFA1]] [[gene]].
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| ==Diagnosis==
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| It has one or more of these features:
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| *The [[collarbone]]s are partly or completely missing. If they are completely missing, the shoulders can touch each other in front of the chest.
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| *The [[fontanelle]]s of the [[skull]] are late in closing, or never close.
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| *[[Extra teeth]]
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| *[[Permanent teeth]] not erupting.
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| *Bossing (= bulging) of the [[forehead]].
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| The following are the imaging findings
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| * Poorly ossified skull, widening of the sutures and multiple wormian bones. In some patients the foramen magnum is deformed, and basilar invagination is often evident.
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| * Absence of the clavicles (either partial or total) may be observed
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| * Other findings include:
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| ** Hypoplastic scapula
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| ** Bell-shaped thorax
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| ** Pelvic changes including delayed ossification of the pubic bones, a wide symphysis pubis and narrow iliac wings.
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| ** Coxa valga or coxa vara deformity may also develop
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| ** Spina bifida occulta is present in some cases
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| '''Patient #1'''
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| <gallery>
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| Image:
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| Cleidocranial-dysostosis-001.jpg | |
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| Image:
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| Cleidocranial-dysostosis-002.jpg
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| </gallery>
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| '''Patient #2'''
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| <gallery>
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| Image:
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| Cleidocranial-dysostosis-201.jpg
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| Image:
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| Cleidocranial-dysostosis-202.jpg
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| Image:
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| Cleidocranial-dysostosis-203.jpg
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| Image:
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| Cleidocranial-dysostosis-004.jpg
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| </gallery>
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| ==References==
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| {{reflist|2}}
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| {{WH}}
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| {{WS}}
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| ==External links==
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| *http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Cleidocranial+Dysplasia
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| *http://www.cafamily.org.uk/Direct/c37.html
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| *[http://www.faces-cranio.org/Disord/CCD.htm The National Craniofacial Association]
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| *http://www.medterms.com/script/main/art.asp?articlekey=6549
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| *http://www.dental.mu.edu/oralpath/lesions/cleidocraniadys/cleidocraniadys.htm
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| *http://www.ncbi.nlm.nih.gov/books/bv.fcgi?indexed=google&rid=gene.chapter.ccd
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| *[http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=66 Medical Imaging on CCD]
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| {{Congenital malformations and deformations of musculoskeletal system}}
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| {{disease-stub}}
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| [[pl:Dysplazja obojczykowo-czaszkowa]]
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| [[fr:Dysplasie cleido cranienne]]
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| [[Category:Disease]]
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| [[Category:Congenital disorders]]
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