Dysostosis cleidocranialis: Difference between revisions
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'''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. | |||
== Pathogenesis == | == Pathogenesis == | ||
* [[ | * [[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> | ||
{{ | {{Cite | ||
| | | type = web | ||
| | | surname1 = Mendoza-Londono | ||
| | | name1 = Roberto | ||
| | | surname2 = Lee | ||
| | | name2 = Brendan | ||
| url = https://www.ncbi.nlm.nih.gov/books/NBK1513/ | | url = https://www.ncbi.nlm.nih.gov/books/NBK1513/ | ||
| | | source_name = Cleidocranial Dysplasia| cited = 2017-05-29}}</ref> | ||
== Clinical picture == | == Clinical picture == | ||
It usually manifests itself in the first 2 years, '''typical symptoms are''': | 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, | ||
* short stature | * aplasia / hypoplasia of the clavicle, | ||
* short stature | |||
* hypermobility of the arm girdle, | * hypermobility of the arm girdle, | ||
* neuromuscular disorders from [[ | * neuromuscular disorders from [[Brachial Plexus|brachial plexus]] damage and agenesis of some chest muscles, | ||
* [[ | * [[scoliosis]], hollow chest, | ||
* | * brachycephaly, | ||
* poorly developed [[ | * poorly developed dentition ([[Teething|delayed eruption and replacement]] of teeth). | ||
== X-ray image == | == X-ray image == | ||
* '''Defective clavicles'''(in the lateral and central part), | * '''Defective clavicles'''(in the lateral and central part), | ||
* '''delayed closrie of fontanelles''' and cranial sutures (as opposed to [[ | * '''delayed closrie of fontanelles''' and cranial sutures (as opposed to [[craniostenosis]]), | ||
* possibly deformities of the chest, pelvis, [[ | * possibly deformities of the chest, pelvis, [[scoliosis |scoliosis]], [[Cleft defect|spina bifida]] occulta. | ||
== Therapy == | == Therapy == | ||
* Reconstruction of the clavicles is not recommended, sometimes decompression of the brachial plexus, | * Reconstruction of the clavicles is not recommended, sometimes decompression of the brachial plexus, | ||
* [[coxa vara]]: valgus intertrochanteric osteotomy, | * [[Coxa vara adolescentium|coxa vara]]: valgus intertrochanteric osteotomy, | ||
* strengthening of the muscles of the shoulder girdle: exercise, bandage, | * strengthening of the muscles of the shoulder girdle: exercise, bandage, | ||
* treatment of [[ | * treatment of [[scoliosis |scoliosis]]. | ||
<noinclude> | <noinclude> | ||
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== Links == | == Links == | ||
=== Related articles === | === Related articles === | ||
* [[ | * [[Achondroplasia |Achondroplasia]] | ||
* [[ | * [[Thanatophoric dwarfism|Thanatophoric dwarfism]] | ||
* [[ | * [[Diastrophic dwarfism|Diastrophic dysplasia (diastrophic dwarfism)]] | ||
* [[ | * [[Spondyloepiphyseal dysplasia]] | ||
* [[ | * [[Apert Syndrome|Apert syndrome (acrocephalosyndactyly)]] | ||
* [[Osteogenesis imperfecta|Osteogenesis imperfecta (osteopsathyrhosis,ossium fragility)]] | * [[Osteogenesis imperfecta|Osteogenesis imperfecta (osteopsathyrhosis,ossium fragility)]] | ||
* [[Arthrogryposis multiplex congenita]] | * [[Arthrogryposis multiplex congenita]] | ||
=== Reference === | === Reference === | ||
=== | # MENDOZA-LONDONO, Roberto and Brendan LEE. ''Cleidocranial Dysplasia'' [online]. [feeling. 2017-05-29]. < <nowiki>https://www.ncbi.nlm.nih.gov/books/NBK1513/</nowiki> >. | ||
* | # 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> | ||
[[ | [[Category:Orthopaedics]] | ||
[[ | [[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]
- Achondroplasia
- Thanatophoric dwarfism
- Diastrophic dysplasia (diastrophic dwarfism)
- Spondyloepiphyseal dysplasia
- Apert syndrome (acrocephalosyndactyly)
- Osteogenesis imperfecta (osteopsathyrhosis,ossium fragility)
- Arthrogryposis multiplex congenita
Reference[edit | edit source]
- MENDOZA-LONDONO, Roberto and Brendan LEE. Cleidocranial Dysplasia [online]. [feeling. 2017-05-29]. < https://www.ncbi.nlm.nih.gov/books/NBK1513/ >.
- 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 .
- ↑ MENDOZA-LONDONO, Roberto – LEE, Brendan. Cleidocranial Dysplasia [online]. [cit. 2017-05-29]. <https://www.ncbi.nlm.nih.gov/books/NBK1513/>.
