Three cases of Osteopetrosis in a family

Background and Objective: Osteopetrosis is a rare congenital bone disease, characterized by generalized increase in skeletal density. It has been recognized several types of osteopetrosis with varying severity. Cases: In this survey, three cases with osteopetrosis in a family are reported. Case 1 wa...

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Autor principal:	N Nakhjavani
Formato:	article
Lenguaje:	EN FA
Publicado:	Babol University of Medical Sciences 2004
Materias:	osteopetrosis increased bone density albers schonberg Medicine R Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/634d3985fffd4dc4860379288b6b0165
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spelling	oai:doaj.org-article:634d3985fffd4dc4860379288b6b01652021-11-10T09:15:56ZThree cases of Osteopetrosis in a family1561-41072251-7170https://doaj.org/article/634d3985fffd4dc4860379288b6b01652004-01-01T00:00:00Zhttp://jbums.org/article-1-2741-en.htmlhttps://doaj.org/toc/1561-4107https://doaj.org/toc/2251-7170Background and Objective: Osteopetrosis is a rare congenital bone disease, characterized by generalized increase in skeletal density. It has been recognized several types of osteopetrosis with varying severity. Cases: In this survey, three cases with osteopetrosis in a family are reported. Case 1 was a 2-month-old girl with anemia, hepatosplenomegaly, blindness, and generalized increase density of bones who was admitted in hospital with diagnosis of osteopetrosis congenital. She died at 11 months old due to septicemia. Case 2 was the brother of the case 1 who was diagnosed as osteopetrosis after birth according to increased bone density, which was shown on his bone survey. During three year follow up of the patient, there was no clinical or lab findings. Father of the patients had history of recurrent bone fracture with good healing. Radiography of his vertebral column showed increase density of bones. The diagnosis was done as osteopetrosis Tarda or Albers Schonberg disease. Conclusion: It was suggested that whenever radiography of the patient shows increase density of bone, one of the diagnosis could be osteopetrosis and it needs more investigation in the family.N NakhjavaniBabol University of Medical Sciencesarticleosteopetrosisincreased bone densityalbers schonbergMedicineRMedicine (General)R5-920ENFAMajallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, Vol 6, Iss 1, Pp 60-63 (2004)
institution	DOAJ
collection	DOAJ
language	EN FA
topic	osteopetrosis increased bone density albers schonberg Medicine R Medicine (General) R5-920
spellingShingle	osteopetrosis increased bone density albers schonberg Medicine R Medicine (General) R5-920 N Nakhjavani Three cases of Osteopetrosis in a family
description	Background and Objective: Osteopetrosis is a rare congenital bone disease, characterized by generalized increase in skeletal density. It has been recognized several types of osteopetrosis with varying severity. Cases: In this survey, three cases with osteopetrosis in a family are reported. Case 1 was a 2-month-old girl with anemia, hepatosplenomegaly, blindness, and generalized increase density of bones who was admitted in hospital with diagnosis of osteopetrosis congenital. She died at 11 months old due to septicemia. Case 2 was the brother of the case 1 who was diagnosed as osteopetrosis after birth according to increased bone density, which was shown on his bone survey. During three year follow up of the patient, there was no clinical or lab findings. Father of the patients had history of recurrent bone fracture with good healing. Radiography of his vertebral column showed increase density of bones. The diagnosis was done as osteopetrosis Tarda or Albers Schonberg disease. Conclusion: It was suggested that whenever radiography of the patient shows increase density of bone, one of the diagnosis could be osteopetrosis and it needs more investigation in the family.
format	article
author	N Nakhjavani
author_facet	N Nakhjavani
author_sort	N Nakhjavani
title	Three cases of Osteopetrosis in a family
title_short	Three cases of Osteopetrosis in a family
title_full	Three cases of Osteopetrosis in a family
title_fullStr	Three cases of Osteopetrosis in a family
title_full_unstemmed	Three cases of Osteopetrosis in a family
title_sort	three cases of osteopetrosis in a family
publisher	Babol University of Medical Sciences
publishDate	2004
url	https://doaj.org/article/634d3985fffd4dc4860379288b6b0165
work_keys_str_mv	AT nnakhjavani threecasesofosteopetrosisinafamily
_version_	1718440197210767360

Three cases of Osteopetrosis in a family

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