Cleidocranial dysostosis, also called Cleidocranial dysplasia or Mutational dysostosis, is a hereditary congenital disorder, where there is delayed ossification of midline structures. ==Etiopathogenesis== It is usually autosomal dominant, but in some cases the cause is not known. It occurs due to haploinsufficiency caused by mutations in the CBFA1...
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http://en.wikipedia.org/wiki/Cleidocranial_dysostosis
rare congenital, hereditary disorder characterized by collarbones that are absent or reduced in size, skull abnormalities, and abnormal dentition. ...
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http://www.britannica.com/eb/a-z/c/95
<paediatrics> An inherited disorder of bone development transmitted with an autosomal dominant pattern. ... Characteristics include absent or incompletely formed collar bones, dental abnormalities, joint laxity and a characteristic facial appearance (heavy brow, protruding jaw, wide nasal bridge and malaligned teeth). ... Inheritance: autosom...
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http://www.encyclo.co.uk/local/20973
an autosomal dominant condition in which there is defective ossification of the cranial bones, complete or partial absence of the clavicles (so that the shoulders may be brought together, or nearly together, in front), and dental and vertebral anomalies.
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http://www.encyclo.co.uk/local/21001
Type: Term Definitions: 1. a developmental disorder characterized by absence or hypoplasia of clavicles, box-shaped cranium with open sutures, frontal bossing, sutural bones, ability to oppose shoulders, and missing teeth; autosomal dominant inheritance, caused by mutation in the transcription factor gene (CBFA1) encoding core-binding factor, runt ...
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http://www.medilexicon.com/medicaldictionary.php?t=27330
Cleidocranial dysostosis: A genetic (inherited) disorder of bone development characterized by: Absent or incompletely formed collar bones (the 'cleido-' part refers to the clavicles, the collar bones) The child with this disorder can bring its shoulders together or nearly so; and Typical cranial and facial abnormalities with square skull, late clos...
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http://www.medterms.com/script/main/art.asp?articlekey=6548
No exact match found.
