The syndrome of cleidocranial dysostosis, first described by Marie and Sainton in 1897,1 is characterized by (1) an aplasia, more or less marked, of one or both clavicles; (2) exaggerated development of the transverse diameter of the cranium; (3) a delay in the ossification of the fontanel, and (4) hereditary transmission.
It is fairly well agreed by all reporting on the condition that the clavicular deformity is the most essential feature. The clavicular abnormality may consist of absence or underdevelopment of one or both clavicles. Cases are reported in which the midportion of one clavicle consisted of a fibrous cord. Fitzwilliams2 reported twenty-four cases in which the clavicular deformity consisted of a ligamentous prolongation from the inner end outward. A great number of cases are on record in which only the sternal end of the clavicle is represented. Cases in which the acromial end alone is present are
LEOPOLD JS, CASTROVINCI F. CLEIDOCRANIAL DYSOSTOSISAN ATYPICAL CASE IN A CHILD. Am J Dis Child. 1933;46(1):113–118. doi:10.1001/archpedi.1933.01960010123012