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Genet Couns. 2012;23(2):175-84.

A report of three patients with MMP2 associated hereditary osteolysis.

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Department of Clinical Genetics, Human Genetics & Genome Research Division, National Research Centre, Cairo, Egypt.


Osteolysis syndromes are rare hereditary disorders characterized by destruction and resorption of affected bones. The current study adds three new patients from two unrelated consanguineous families with a severe form of inherited osteolysis. Clinical examination, radiological, biochemical, ultrastructural and molecular studies were conducted. Clinical and radiological studies suggested the diagnosis of Torg-Winchester syndrome. The three affected patients were homozygous for novel MMP2 gene mutations which confirmed the diagnosis. Our patients are the first to be reported from Egypt thus, supporting the pan ethnic nature of the disease.

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