Kleidokraniale Dysplasie

Panoramic
view of the jaws showing multiple unerupted supernumerary teeth mimicking premolar, missing gonial angles and underdeveloped maxillary sinuses.
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Chest
radiograph (PA View) of the patient showing thinning and hypoplasia of the clavicles and bell shaped rib-cage.
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Lateral skull
radiograph showing open skull sutures, large fontanels, multiple wormian bones and underdeveloped paranasal sinuses.
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Toddler with
drooping shoulders. AP and lateral radiographs of the skull (above) show multiple wormian bones in the lambdoid sutures. CXR AP (middle) shows complete absence of the clavicles bilaterally. AP radiograph of the pelvis (below) shows delayed ossification of the pubic bones giving the appearance of pseudo-diastasis of the symphysis pubis.The diagnosis was cleidocranial dysostosis.
pediatricimaging.org • CC-by-nc-sa 4.0
Radiological
review of skull lesions. Cleidocranial dysostosis. Axial (a) and coronal (b, c) head CT images show islands of intra-sutural bones (dashed arrows) in the lambdoid and sagittal sutures representing wormian bones. Chest radiograph (d) in the same patient depicts hypoplasia of the bilateral clavicles (arrows), confirming cleidocranial dysostosis
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Radiopaedia • CC-by-nc-sa 3.0 • de

Cleidocranial dysostosis (CCD), also known as cleidocranial dysplasia, is a rare skeletal dysplasia with predominantly membranous bone involvement, which carries an autosomal dominant inheritance .

Clinical presentation

  • large head, with large fontanelles with delayed closure
  • broad mandible
  • supernumerary teeth
  • high arched palate
  • neonatal distress due to thorax being narrowed and bell shaped
  • excessively mobile and drooping shoulders
  • may have genu valgum and short fingers

Pathology

It is a rare polyostotic skeletal dysplasia caused by a mutation in CBFA1 gene in AD inherited or sporadic mutation pattern (in approximately 40%) which is characterized by incomplete intramembranous ossification of midline skeletal structures inclusive of the clavicle as well as a defective development of the pubic bones, vertebral column, and long bones .

Radiographic features

Plain radiograph
Skull
Chest
Pelvis
  • hypoplasia of iliac bones
  • absent/delayed ossification of the pubic bone creating the appearance of a pseudo-widening of the symphysis pubis
Limbs
  • short/absent fibula
  • short/absent radius
  • coxa vara
  • hypoplastic terminal phalanges
  • pseudoepiphysis of metacarpals and metatarsal bones
Siehe auch:
und weiter:
Assoziationen und Differentialdiagnosen zu Kleidokraniale Dysplasie:
Coxa vara
 
Wikipedia • CC BY-SA 3.0
Basiläre
Impression
Wikipedia • CC BY-SA 3.0
Wormsche
Knochen
Wikipedia • CC BY-SA 3.0
Skelettdysplasie
 
Wikipedia • CC BY 2.0
Pyknodysostose
 
pediatricimaging.org • CC-by-nc-sa 4.0
Halbwirbel
 
Wikipedia • CC BY-SA 3.0
überzählige
Zähne
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