Cleidocranial dysostosis (CCD), also known as cleidocranial dysplasia, is a rare skeletal dysplasia with predominantly membranous bone involvement, which carries an autosomal dominant inheritance 4.
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Clinical presentation
large head, with large fontanelles with delayed closure
broad mandible
neonatal distress due to the 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 the 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 5.
Radiographic features
Plain radiograph
Skull
multiple wormian bones
widened sagittal sutures and/or fontanelles
premature fusion of the coronal suture (brachycephaly)
frontal and/or parietal bossing
basilar invagination (atlantoaxial impaction)
supernumerary or abnormal teeth
abnormal ear structures with hearing loss 6
Chest
hypoplasia/aplasia of the lateral clavicle (absent clavicles): may have two separate hypoplastic segments 5
hemivertebrae with spondylosis
small and high scapulae
Pelvis
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
pseudoepiphysis of metacarpals and metatarsal bones
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