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osteopetrosis

Pronunciation: os'te-o-pe-tro'sis

Definition: Excessive formation of dense trabecular bone and calcified cartilage, especially in long bones, leading to obliteration of marrow spaces and to anemia with myeloid metaplasia and hepatosplenomegaly beginning in infancy, to bone fragility, and to progressive deafness and blindness; autosomal dominant inheritance. There are also autosomal recessive forms, which may be mild [MIM*259710], severe [MIM*259700], or lethal [MIM*259720], and sometimes involve a renal tubular defect [MIM*259730]. A milder, autosomal dominant form has onset in childhood and no neurologic sequelae.

Synonym(s): Albers-Schönberg disease, marble bone disease, marble bones

[osteo- + G. petra, stone, + -osis, condition]

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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