PP82. TWO SIBLINGS WITH MULTIPLE EXOSTOSES
Ayse Cefle1, Kivanc Cefle2, DAVUT PEHLIVAN3 1Kocaeli University Medical Faculty, Department of Internal Medicine, Division of Rheumatology, Kocaeli, Turkey 2Istanbul University, Istanbul Medical Faculty, Department of Internal Medicine, Division of Medical Genetics, Istanbul, Turkey 3Istanbul University, Istanbul Medical Faculty, Department of Medical Genetics, Istanbul, Turkey
*Corresponding Author:
page: 84

Abstract

Multiple hereditary exostoses is an autosomal dominant disorder where the main feature is multiple projections of bone in the metaphyses and  on the diaphyses of long bones. In this case report we describe two siblings affected by multiple exostoses.

Our patient is a 26 year-old woman with bony overgrowhs on the knee, wrists and distal ends of the radii. She first noticed enlargement of the tibia in early childhood. She had been evaluated in other hospitals without a definite diagnosis. Physical examination showed bony tuberances on the proximal end of both tibiae, right ssapulae and distal ends of both radii. Radiological examination revealed typical exostoses  at the ends of long bones (radius, humerus andtibia). Her 24-yar old brother had a similar history and physical findings (bony tuberances on distal radii, tibia, femur). Radiological examination revelaed the same abnormalities as his sister, establishing the diagnosis as multiple hereditary exostoses. Although not examined personally, two sisters and the father were claimed to have similar abnormalities.

Multiple exostoses is usually diagnosed during the first decade of life. New outgrowhts and enlargement of old exostoses may occur through adolescence. No new lesions form after puberty.  Thereafter, pain or new growth should be evaluated considering malignant transformation.. Patients should followed for other complications including nerve, spinal chord and blood vessel compression and arthritis. The diagnosis may be delayed as the case under discussion and hereditary exostoses should be included in the differential diagnosos of patients presenting with bony overgrowths.




Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006