Cleidocranial dysplasia in humans

Cleidocranial dysplasia (CCD,McKusick 118980)
is an autosomal dominant skeletal disease
characterizedmainly by absence of the clavicles
and deficient bone formation of the skull. CCD is
now considered a generalized bone dysplasia.
Radiological findings are consistent with generalized
underossification (Mundlos, 1999).
Patients can oppose their shoulders (1) due to
absence of the clavicles (2; photograph by Dr. J.
Warkany, Cincinnati). The calvarium (skull
case) is enlarged with a poorly ossified midfrontal
area (3).