Unique abnormalities of bone, especially of the craniofacial skeleton, were found in a young woman with recurrent mandibular fractures and in three of her four sibs. The sibship was the product of a consanguineous marriage. Compared to other genetic disorders of the face, the anatomic defect in these sibs was highly specific for bone. This new syndrome, named "familial osteodysplasia," had an apparent autosomal recessive pattern of inheritance.
Anderson LG, Cook AJ, Coccaro PJ, Coro CJ, Bosma JF. Familial Osteodysplasia. JAMA. 1972;220(13):1687-1693. doi:10.1001/jama.1972.03200130021004