Abstract
From one personal patient and thirteen reported in the literature, arthro-dento-osteo dysplasia (ADOD) is defined as a heritable connective tissue disorder with the main clinical manifestations of laxity of joints, early loss of teeth, and multiple osteolytic lesions, including acro-osteolysis, on roentgenographic examination. These lesions are likely to represent “pseudo-osteolysis” with faulty primary bone formation rather than true osteolysis of previously normal bone.
ADOD is an example of relational pleiotropism with most clinical manifestations representing secondary effects and deformities. The cranial sutures frequently remain uncalcified and contain multiple Wormian bones. Secondary deformities may be progressive and affect primarily the skull, spine, fingers and fingernails. Pathologic fractures are clinically the most important manifestation of ADOD.
In one family the mother and four of her six children were affected. The other nine case reports describe sporadic instances. ADOD is presumed to be caused by an autosomal dominant gene, the sporadic cases representing new mutations.
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Studies supported by PHS/NIH Grants GM 15422 and 1 K04 HD-18982. This paper is contributed in part as paper number 1566 of the University of Wiscosin Genetics Laboratory
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Herrmann, J., Zugibe, F.T., Gilbert, E.F. et al. Arthro-dento-osteo dysplasia (Hajdu-Cheney syndrome). Z. Kinder-Heilk. 114, 93–110 (1973). https://doi.org/10.1007/BF00440497
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DOI: https://doi.org/10.1007/BF00440497