14 year old female, minor trauma

Wormian Bones/ Cleidocranial Dysostosis

• Initial images showed Wormian Bones, especially involving the lambdoid sutures
• DDX:   “PORK CHOPPS 1” 
  Pyknodysostosis, Osteogenesis imperfecta, Rickets (healing), Kinky hair syndrome, Cleidocranial dysostosis, Hypothyroidism/ Hypophosphatasia, Otopalatodigital syndrome, Primary Acrossteolysis (= Hajdu- Cheney), Pachydermoperiostosis, Progeria, Syndrome of Down, Idiopathic (normal variant, esp. up to 6 months of age)

Another Example

This example shows very clearly where wormian bones occur.

• The PA CXR shows absence of both clavicles, which is in the presence of Wormian bones, is virtually pathognomonic for Cleidocranial Dysostosis.
• Autosomal dominant, with delayed ossification of midline structures.
•  Skull: large head, wormian bones, wide sutures, prominent bossing.
•  Chest: hypoplasia/ absence of clavicles, supernumerary ribs, hemi vertebrae, spondylolysis.
• Pelvis: delayed ossification of bones forming the symphysis pubis.
• Extremities: short/ absent radius, coned epiphyses, etc.