Arthrodentoosteodysplasia: a genetic "acroosteolysis" syndrome.
From one personal patient and 13 reported in the literature, arthrodentoosteodysplasia (ADOD) is defined as a heritable disorder of connective tissue with the main clinical manifestations of laxity of joints, early loss of teeth, and multiple osteolytic lesions, including acroosteolysis on roentgenographic examination. These lesions probably represent "pseudoosteolysis" 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 in unusual places. 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.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D006801:Humans; D007596:Joints / Q000002:abnormalities*; D017880:Limb Deformities, Congenital; D008297:Male; D008844:Micrognathism / Q000235:genetics*; D008875:Middle Aged; D010024:Osteoporosis / Q000235:genetics*; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics*