Dysostosis cleidocranialis: Difference between revisions
Feedback

From WikiLectures

VisualWikitext
mNo edit summary
No edit summary
 
(22 intermediate revisions by 3 users not shown)
Line 1: Line 1:
{{Infobox - genetická choroba
| název = Dysostosis cleidocranialis
| obrázek = Cleidocranial.jpg
| popisek = Hypoplázie klíčních kostí, zvonovitý hrudní koš
| klinický obraz = široká hlava, malý vzrůst, hypermobilita pažního pletence, skolióza, nedostatečně vyvinutá horní čelist
| příčina = Mutace genu RUNX2
| diagnostika =
| SLG =
| incidence ve světě =
| prognóza =
| MKN =
| MeSH ID = {{MeSH ID|bmc54138889}}
| OMIM =
| orphanet =
| MedlinePlus =
| Medscape =
}}__noTOC__
'''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..


== Patogeneze ==
'''Dysostosis''' (dysplasia) '''cleidocranialis''' is an [[autosomal dominant inheritance|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.
* [[Mutace]] [[gen]]u ''RUNX2'' (runt related transcription factor 2, pojmenování genu doporučené HGNC; dřívější jméno genu<strong><em> </em></strong>''CBFA1'') → produkována abnormální kostní tkáň. <ref>
== Pathogenesis ==
{{Citace
* [[Mutation|Mutation]] of the ''RUNX2'' [[gene|gene]] (runt related transcription factor 2, gene naming recommended by HGNC; former gene name ''CBFA1'') → abnormal bone tissue produced.<ref>
| typ = web
{{Cite
| příjmení1 = Mendoza-Londono
| type = web
| jméno1 = Roberto
| surname1 = Mendoza-Londono
| příjmení2 = Lee
| name1 = Roberto
| jméno2 = Brendan
| surname2 = Lee
| name2 = Brendan
| url = https://www.ncbi.nlm.nih.gov/books/NBK1513/
| url = https://www.ncbi.nlm.nih.gov/books/NBK1513/
| název = Cleidocranial Dysplasia| citováno = 2017-05-29}}</ref>
| source_name = Cleidocranial Dysplasia| cited = 2017-05-29}}</ref>
== Clinical picture ==
It usually manifests itself in the first 2 years, '''typical symptoms are''':


== Klinický obraz ==
* broad head, relatively small face with hypertelorism, vertical shoulders, narrow chest, dentition disorder, persistent fontanelles,
Projeví se obvykle v prvních 2 letech, '''typické příznaky jsou:'''
* aplasia / hypoplasia of the clavicle,
* široká hlava, relativně malý obličej s [[hypertelorismus|hypertelorismem]], svislá ramena, úzký hrudník, porucha dentice, perzistující fontanely,
* short stature
* '''aplázie / hypoplázie [[clavicula|klavikuly]]''',
* hypermobility of the arm girdle,
* malý vzrůst<ref>{{Citace
* neuromuscular disorders from [[Brachial Plexus|brachial plexus]] damage and agenesis of some chest muscles,
  | typ = článek
* [[scoliosis]], hollow chest,
  | příjmení1 = Wang
* brachycephaly,
  | jméno1 = Jiangping
* poorly developed dentition ([[Teething|delayed eruption and replacement]] of teeth).
  | příjmení2 = Huang
  | jméno2 = Xinwen
  | příjmení3 = Lai
  | jméno3 = Can
  | kolektiv = ano
  | článek = Clinical spectrum of cleidocranial dysplasia in a family with twins
  | časopis = Pediatr Int
  | rok = 2013
  | číslo = 3
  | svazek = 55
  | strany = 392-5
  | url = https://www.ncbi.nlm.nih.gov/pubmed/23782374
  | issn = 1442-200X
}}</ref>
* hypermobilita pažního pletence,
* neuromuskulární poruchy z poškození [[nervy horní končetiny|plexus brachialis]] a ageneze některých svalů hrudníku,
* [[skolióza]], [[pectus excavatum]],
* [[kraniostenóza|brachycefalie]],
* špatně vyvinutý [[zuby|chrup]] (opožděné prořezávání a výměna zubů).


== Rentgenový obraz ==
== X-ray image ==
* '''Defektní klavikuly''' (v lat. a centr. části),
* '''Defective clavicles'''(in the lateral and central part),
* '''opožděný uzávěr fontanel''' a lebečních švů (na rozdíl od [[kraniostenóza|kraniosynostóz]]),
* '''delayed closrie of fontanelles''' and cranial sutures (as opposed to [[craniostenosis]]),
* ev. deformity hrudníku, pánve, [[skolióza]], [[spina bifida]] occulta.
* possibly deformities of the chest, pelvis, [[scoliosis |scoliosis]], [[Cleft defect|spina bifida]] occulta.


== Terapie ==
== Therapy ==
* Rekonstrukce klíčních kostí se nedoporučuje, někdy dekomprese plexus brachialis,
* Reconstruction of the clavicles is not recommended, sometimes decompression of the brachial plexus,
* [[coxa vara]]: valgizační intertrochanterická osteotomie,
* [[Coxa vara adolescentium|coxa vara]]: valgus intertrochanteric osteotomy,
* posílení svalstva pletence ramenního: cvičení, bandáž,
* strengthening of the muscles of the shoulder girdle: exercise, bandage,
* léčba [[skolióza|skoliózy]].
* treatment of [[scoliosis |scoliosis]].


<noinclude>
<noinclude>


== Odkazy ==
== Links ==
=== Související články ===
=== Related articles ===
* [[Achondroplázie]]
* [[Achondroplasia |Achondroplasia]]
* [[Tanatoforický dwarfismus]]
* [[Thanatophoric dwarfism|Thanatophoric dwarfism]]
* [[Diastrofický dwarfismus|Diastrofická dysplázie (diastrofický dwarfismus)]]
* [[Diastrophic dwarfism|Diastrophic dysplasia (diastrophic dwarfism)]]
* [[Spondyloepifyzární dysplázie]]
* [[Spondyloepiphyseal dysplasia]]
* [[Apertův syndrom|Apertův syndrom (akrocefalosyndaktylie)]]
* [[Apert Syndrome|Apert syndrome (acrocephalosyndactyly)]]
* [[Osteogenesis imperfecta|Osteogenesis imperfecta (osteopsatyrhosis, fragilitas ossium)]]
* [[Osteogenesis imperfecta|Osteogenesis imperfecta (osteopsathyrhosis,ossium fragility)]]
* [[Arthrogryposis multiplex congenita]]
* [[Arthrogryposis multiplex congenita]]


=== Reference ===
=== Reference ===
<references />


=== Použitá literatura ===
# MENDOZA-LONDONO, Roberto and Brendan LEE. ''Cleidocranial Dysplasia''  [online]. [feeling. 2017-05-29]. < <nowiki>https://www.ncbi.nlm.nih.gov/books/NBK1513/</nowiki> >.
* {{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}}
# WANG, Jiangping, Xinwen HUANG, and Can LAI, et al. Clinical spectrum of cleidocranial dysplasia in a family with twins. ''Pediatr Int'' [online] ''. ''2013, vol. 55, no. 3, pp. 392-5, also available from < <nowiki>https://www.ncbi.nlm.nih.gov/pubmed/23782374</nowiki> >. ISSN 1442-200X. 
 
=== Sources ===
 
* DUNGLE, P., et al. ''Orthopedics. ''1st edition. Prague: Grada Publishing, 2005.  <nowiki>ISBN 80-247-0550-8</nowiki> .
 
</noinclude>
</noinclude>


[[Kategorie:Ortopedie]]
[[Category:Orthopaedics]]
[[Kategorie:Genetika]]
[[Category:Genetics]]

Latest revision as of 19:27, 11 November 2023

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[edit | edit source]

  • 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[edit | edit source]

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
  • hypermobility of the arm girdle,
  • neuromuscular disorders from brachial plexus damage and agenesis of some chest muscles,
  • scoliosis, hollow chest,
  • brachycephaly,
  • poorly developed dentition (delayed eruption and replacement of teeth).

X-ray image[edit | edit source]

  • Defective clavicles(in the lateral and central part),
  • delayed closrie of fontanelles and cranial sutures (as opposed to craniostenosis),
  • possibly deformities of the chest, pelvis, scoliosis, spina bifida occulta.

Therapy[edit | edit source]

  • 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[edit | edit source]

Related articles[edit | edit source]

Reference[edit | edit source]

  1. MENDOZA-LONDONO, Roberto and Brendan LEE. Cleidocranial Dysplasia  [online]. [feeling. 2017-05-29]. < https://www.ncbi.nlm.nih.gov/books/NBK1513/ >.
  2. WANG, Jiangping, Xinwen HUANG, and Can LAI, et al. Clinical spectrum of cleidocranial dysplasia in a family with twins. Pediatr Int [online] . 2013, vol. 55, no. 3, pp. 392-5, also available from < https://www.ncbi.nlm.nih.gov/pubmed/23782374 >. ISSN 1442-200X. 

Sources[edit | edit source]

  • DUNGLE, P., et al. Orthopedics. 1st edition. Prague: Grada Publishing, 2005.  ISBN 80-247-0550-8 .
  1. ↑ MENDOZA-LONDONO, Roberto – LEE, Brendan. Cleidocranial Dysplasia [online]. [cit. 2017-05-29]. <https://www.ncbi.nlm.nih.gov/books/NBK1513/>.
Retrieved from "https://www.wikilectures.eu/index.php?title=Dysostosis_cleidocranialis&oldid=89119"