Autosomal recessive osteopetrosis: case report of two siblings
Purchase on Springer.com
$39.95 / €34.95 / £29.95*
Rent the article at a discountRent now
* Final gross prices may vary according to local VAT.
Malignant osteopetrosis is a rare congenital disorder of bone resorption, occurring in less than 1 in 200 000 births. It is caused by the failure of osteoclasts to resorb immature bone. We report on two siblings with autosomal recessive osteopetrosis. The prominent clinical features were short stature, progressive blindness, defective development of primary and permanent teeth, and anemia.
- Worth HM. Principles and practice of oral radiologic interpretation. Chicago: Year Book Publishers; 1963.
- Van Hul W, Vanhoenacker F, Balemans W, Janssens K, De Schepper AM. Molecular and radiological diagnosis of sclerosing bone dysplasias. Eur J Radiol 2001;40:198–207. CrossRef
- White SC, Pharoah MJ. Oral radiology: principles and interpretation. 4th ed. Systemic diseases manifested in the jaws. St. Louis: Mosby; 2000. p. 472–492.
- Wilson CJ. Autosomal recessive osteopetrosis. Orphanet Encyclopedia, March 2003. http://www.orpha.net/data/patho/GB/ukmalosteo.pdf
- Filho AM, de Castro Domingos A, de Freitas DQ, Whaites EJ. Osteopetrosis - a review and report of two cases. Oral Dis 2005;11:46–49. CrossRef
- Venkateshwar V, Voidya A, Roy P, Songeeta S, De JK. Osteopetrosis. Med J Armed Forces India 2003;59:344–346.
- Phadke SR, Gupta A, Pahi J, Pandey A, Gautam P, Agarwal SS. Malignant recessive osteopetrosis. Indian Paediatr 1999;36:69–74.
- Shaff MI, Mathis JM. Osteomyelitis of the mandible — an initial feature in late-onset osteopetrosis. Arch Otolaryngol 1982;108:120–121.
- Bhargava A, Blank R. Osteopetrosis. eMedicine, 22 October 2007. http://www.emedicine.com/med/topic1692.htm
- Malinger G, Ornoy A, El Shawwa R, Zakut H, Kohn G. Osteopetrosis. http://www.thefetus.net/page.php?id=366.
- Autosomal recessive osteopetrosis: case report of two siblings
Volume 24, Issue 2 , pp 80-84
- Cover Date
- Print ISSN
- Online ISSN
- Springer Japan
- Additional Links
- Autosomal recessive