Osteopetrosis; a report of two Iranian patients with autosomal recessive inheritance pattern

In the rare hereditary bone disorder of osteopetrosis, reduced bone resorption function leads to both the development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration, typically associated with extramedullary hemopoiesis a...

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Main Authors:	Morovvati, Saeid, Amirpour Amraii, Sara, Zahed Shekar Abi, Hosna, Shahbazi, Nastaran, Ranjbar, Reza
Format:	Online
Language:	English
Published:	Babol University of Medical Sciences 2012
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3920503/

id	pubmed-3920503
recordtype	oai_dc
spelling	pubmed-39205032014-02-18 Osteopetrosis; a report of two Iranian patients with autosomal recessive inheritance pattern Morovvati, Saeid Amirpour Amraii, Sara Zahed Shekar Abi, Hosna Shahbazi, Nastaran Ranjbar, Reza Case Report In the rare hereditary bone disorder of osteopetrosis, reduced bone resorption function leads to both the development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration, typically associated with extramedullary hemopoiesis and hepatosplenomegaly, results in anemia and thrombocytopenia; and nerve entrapment accounts for progressive blindness and hearing loss. Severe infantile or malignant osteopetrosis is the worst type of the disease which has poor prognosis. In this study we report two cases of severe infantile or malignant type of the disease in an Iranian family. Babol University of Medical Sciences 2012 /pmc/articles/PMC3920503/ /pubmed/24551774 Text en © 2012, International Journal of Molecular and Cellular Medicine This is an Open Access article distributed under the terms of the Creative Commons Attribution License, (http://creativecommons.org/licenses/by/3.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Morovvati, Saeid Amirpour Amraii, Sara Zahed Shekar Abi, Hosna Shahbazi, Nastaran Ranjbar, Reza
spellingShingle	Morovvati, Saeid Amirpour Amraii, Sara Zahed Shekar Abi, Hosna Shahbazi, Nastaran Ranjbar, Reza Osteopetrosis; a report of two Iranian patients with autosomal recessive inheritance pattern
author_facet	Morovvati, Saeid Amirpour Amraii, Sara Zahed Shekar Abi, Hosna Shahbazi, Nastaran Ranjbar, Reza
author_sort	Morovvati, Saeid
title	Osteopetrosis; a report of two Iranian patients with autosomal recessive inheritance pattern
title_short	Osteopetrosis; a report of two Iranian patients with autosomal recessive inheritance pattern
title_full	Osteopetrosis; a report of two Iranian patients with autosomal recessive inheritance pattern
title_fullStr	Osteopetrosis; a report of two Iranian patients with autosomal recessive inheritance pattern
title_full_unstemmed	Osteopetrosis; a report of two Iranian patients with autosomal recessive inheritance pattern
title_sort	osteopetrosis; a report of two iranian patients with autosomal recessive inheritance pattern
description	In the rare hereditary bone disorder of osteopetrosis, reduced bone resorption function leads to both the development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration, typically associated with extramedullary hemopoiesis and hepatosplenomegaly, results in anemia and thrombocytopenia; and nerve entrapment accounts for progressive blindness and hearing loss. Severe infantile or malignant osteopetrosis is the worst type of the disease which has poor prognosis. In this study we report two cases of severe infantile or malignant type of the disease in an Iranian family.
publisher	Babol University of Medical Sciences
publishDate	2012
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3920503/
_version_	1612057102540341248

Osteopetrosis; a report of two Iranian patients with autosomal recessive inheritance pattern

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