Dysostosis cleidocranialis: Difference between revisions

Revision as of 19:17, 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

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
hypermobility of the arm girdle,
neuromuscular disorders from the brachial plexus damage and agenesis of some chest muscles,
scoliosis, pectus excavatum,
brachycephaly,
poorly developed teeth (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 craniostenosis),
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

Reference

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

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/>.

[1] MENDOZA-LONDONO, Roberto – LEE, Brendan. Cleidocranial Dysplasia [online]. [cit. 2017-05-29]. <https://www.ncbi.nlm.nih.gov/books/NBK1513/>.

[1]

@@ Line 1: / Line 1: @@
-{{Infobox|name=Dysostosis cleidocranialis|caption=Hypoplasia of clavicles, bell-shaped rib cage|image=https://upload.wikimedia.org/wikipedia/commons/thumb/b/bc/Cleidocranial.jpg/800px-Cleidocranial.jpg}}'''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.
+'''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.{{Infobox|name=Dysostosis cleidocranialis|caption=Hypoplasia of clavicles, bell-shaped rib cage|image=https://upload.wikimedia.org/wikipedia/commons/thumb/b/bc/Cleidocranial.jpg/800px-Cleidocranial.jpg}}
 == 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>