Cleidocranial dysostosis is a condition inherited in an autosomal dominant manner in which 1/3 of the patients show spontaneous mutation and 2/3 show familial variation [4].
Several bone diseases should be considered in the differential diagnosis of pycnodysostosis, most importantly cleidocranial dysostosis, osteogenesis imperfecta and osteopetrosis.
In Werth, the victim suffered cleidocranial dysostosis syndrome, a congenital bone development disorder characterized by a hump on his back, "absent or incompletely-formed collar bones, an abnormally shaped skull, characteristic facial appearance, short stature, and dental abnormalities." 472 F.
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