Dysostosis cleidocranialis: Difference between revisions
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'''Dysostosis''' (dysplasia) '''cleidocranialis''' is an [[autosomálně dominantní dědičnost|AD]] hereditary'''''disorder of desmogenous''''' (gum, calf, pelvis) and '''''enchondral''''' (arm, leg, spine) [[ossification]]. For example, actor Gaten Matarazzo (who played Dustin Henderson in Stranger Things) suffers from the disease.. | '''Dysostosis''' (dysplasia) '''cleidocranialis''' is an [[autosomálně dominantní dědičnost|AD]] hereditary'''''disorder of desmogenous''''' (gum, calf, pelvis) and '''''enchondral''''' (arm, leg, spine) [[ossification]]. For example, actor Gaten Matarazzo (who played Dustin Henderson in Stranger Things) suffers from the disease.. | ||
== | == Pathogenesis == | ||
* [[Mutace]] [[gen]] | * [[Mutace|Mutation]] of the ''RUNX2'' [[gen|gene]] (runt related transcription factor 2, gene naming recommended by HGNC; former gene name ''CBFA1'' ) → abnormal bone tissue produced. . <ref> | ||
{{Citace | {{Citace | ||
| typ = web | | typ = web | ||
| Line 29: | Line 29: | ||
| název = Cleidocranial Dysplasia| citováno = 2017-05-29}}</ref> | | název = Cleidocranial Dysplasia| citováno = 2017-05-29}}</ref> | ||
== | == Clinical picture == | ||
It usually manifests itself in the first 2 years, '''typical symptoms are''': | |||
* | * Broad head, relatively small face with [[hypertelorismus|hypertelorism]], vertical shoulders, narrow chest, dentition disorder, persistent fontanelles, | ||
* ''' | * '''aplasia/ hypoplasia [[clavicula|of the clavicle]]''', | ||
* | * short stature<ref>{{Citace | ||
| typ = článek | | typ = článek | ||
| příjmení1 = Wang | | příjmení1 = Wang | ||
| Line 51: | Line 51: | ||
| issn = 1442-200X | | issn = 1442-200X | ||
}}</ref> | }}</ref> | ||
* | * hypermobility of the arm girdle, | ||
* | * neuromuscular disorders from [[nervy horní končetiny|the brachial plexus]] damage and agenesis of some chest muscles, | ||
* [[skolióza]], [[pectus excavatum]], | * [[skolióza|scoliosis]], [[pectus excavatum]], | ||
* [[kraniostenóza| | * [[kraniostenóza|brachycephaly]], | ||
* | * poorly developed [[zuby|denition]] (delayed eruption and replacement of teeth). | ||
== | == X-ray image == | ||
* ''' | * '''Defective clavicles'''(in the lateral and central part), | ||
* ''' | * '''delayed closrie of fontanelles''' and cranial sutures (as opposed to [[kraniostenóza|craniosynostoses]]), | ||
* | * possibly deformities of the chest, pelvis, [[skolióza|scoliosis]], [[spina bifida]] occulta. | ||
== | == Therapy == | ||
* | * Reconstruction of the clavicles is not recommended, sometimes decompression of the brachial plexus, | ||
* [[coxa vara]]: | * [[coxa vara]]: valgus intertrochanteric osteotomy, | ||
* | * strengthening of the muscles of the shoulder girdle: exercise, bandage, | ||
* | * treatment of [[skolióza|scoliosis]]. | ||
<noinclude> | <noinclude> | ||
== | == Links == | ||
=== | === Related articles === | ||
* [[Achondroplázie]] | * [[Achondroplázie|Achondroplasia]] | ||
* [[Tanatoforický dwarfismus]] | * [[Tanatoforický dwarfismus|Thanatophoric dwarfism]] | ||
* [[Diastrofický dwarfismus| | * [[Diastrofický dwarfismus|DIastrophic dysplasia (diastrophic dwarfism)]] | ||
* [[Spondyloepifyzární dysplázie]] | * [[Spondyloepifyzární dysplázie|Spondyloepiphyseal dysplasia]] | ||
* [[Apertův syndrom| | * [[Apertův syndrom|Apert syndrome (acrocephalosyndactyly)]] | ||
* [[Osteogenesis imperfecta|Osteogenesis imperfecta ( | * [[Osteogenesis imperfecta|Osteogenesis imperfecta (osteopsathyrhosis,ossium fragility)]] | ||
* [[Arthrogryposis multiplex congenita]] | * [[Arthrogryposis multiplex congenita]] | ||
| Line 83: | Line 83: | ||
<references /> | <references /> | ||
=== | === References === | ||
* {{Citace|typ = kniha|příjmení1 = DUNGL|jméno1 = P.|kolektiv = ano|titul = Ortopedie|vydání = 1|místo = Praha|vydavatel = Grada Publishing|rok = 2005|isbn = 80-247-0550-8}} | * {{Citace|typ = kniha|příjmení1 = DUNGL|jméno1 = P.|kolektiv = ano|titul = Ortopedie|vydání = 1|místo = Praha|vydavatel = Grada Publishing|rok = 2005|isbn = 80-247-0550-8}} | ||
</noinclude> | </noinclude> | ||
Revision as of 16:33, 3 January 2023
Template:Infobox - genetická choroba Dysostosis (dysplasia) cleidocranialis is an AD hereditarydisorder of desmogenous (gum, calf, pelvis) and enchondral (arm, leg, spine) ossification. For example, actor Gaten Matarazzo (who played Dustin Henderson in Stranger Things) suffers from the disease..
Pathogenesis
- Mutation of the RUNX2 gene (runt related transcription factor 2, gene naming recommended by HGNC; former gene name CBFA1 ) → abnormal bone tissue produced. . [1]
Clinical picture
It usually manifests itself in the first 2 years, typical symptoms are:
- Broad head, relatively small face with hypertelorism, vertical shoulders, narrow chest, dentition disorder, persistent fontanelles,
- aplasia/ hypoplasia of the clavicle,
- short stature[2]
- hypermobility of the arm girdle,
- neuromuscular disorders from the brachial plexus damage and agenesis of some chest muscles,
- scoliosis, pectus excavatum,
- brachycephaly,
- poorly developed denition (delayed eruption and replacement of teeth).
X-ray image
- Defective clavicles(in the lateral and central part),
- delayed closrie of fontanelles and cranial sutures (as opposed to craniosynostoses),
- possibly deformities of the chest, pelvis, scoliosis, spina bifida occulta.
Therapy
- Reconstruction of the clavicles is not recommended, sometimes decompression of the brachial plexus,
- coxa vara: valgus intertrochanteric osteotomy,
- strengthening of the muscles of the shoulder girdle: exercise, bandage,
- treatment of scoliosis.
Links
Related articles
- Achondroplasia
- Thanatophoric dwarfism
- DIastrophic dysplasia (diastrophic dwarfism)
- Spondyloepiphyseal dysplasia
- Apert syndrome (acrocephalosyndactyly)
- Osteogenesis imperfecta (osteopsathyrhosis,ossium fragility)
- Arthrogryposis multiplex congenita
