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  • Title: Hereditary osteodysplasia with acro-osteolysis. (The Hajdu-Cheney syndrome).
    Author: Elias AN, Pinals RS, Anderson HC, Gould LV, Streeten DH.
    Journal: Am J Med; 1978 Oct; 65(4):627-36. PubMed ID: 707523.
    Abstract:
    A mother and son with acro-osteolysis (Hajdu-Cheney syndrome) are described. In addition to osteolysis of the distal phalanges, these patients have a generalized osseous dysplasia with osteoporosis, premature loss of teeth, short stature and a distinctive facial appearance. In one of the cases an enlarged sella turcica was associated with no abnormality of endocrine function. A biopsy specimen taken from an area of active osteolysis in a phalanx was studied by light and electron microscopy. There was active replacement of central medullary bone by a fibrous and angiomatous process characterized by the presence of small, thick-walled vessels and an unusual number of interspersed nerve fibers and mast cells. A neurovascular dysfunction with local release of osteolytic mediators may be involved in the pathogenesis of the disorder, but the nature of the osteolytic factor is unknown.
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