You are on page 1of 47

c  

 
u   

] ] ] 
u 
]    
  

 
  
  
  
  
   
  
! 
   
 
       & % 
   '(#((( 
  "#  $ $
  $   
 #  
     
       
   
   
   %
  
$   ]

÷ 
 
  ÷     
c      
 
  #     ] 
) *])+

,  ]

m‘ ‘ ‘
m‘ 
‘  ‘
m‘ 
‘ 
‘
‘
m‘ ‘‘
‘ 
‘ ‘
‘  ‘
m‘ 
 ‘ ‘
‘ ‘‘ 
‘
m‘ 
‘
‘
‘ ‘
‘
‘ ‘
‘

‘ ‘

‘  
‘ 
‘

‘
m‘ 
 ‘‘
‘‘
‘
 ‘‘ ‘‘
m‘ ‘ 
‘  ‘

‘ 
‘ ‘

‘‘
‘ 
‘ 
‘

‘
m‘   ‘ 
‘
m‘ 

‘ ‘‘ 

‘
 


m 


m 
 


 



    



  
m 


 

   

m  




m 
   
 


   
  







‘
 

m  
    
m 
  
m   
   
m       
m
      
m         

       
  
m     
m             
 
m      
m    

m      
m        

‘
 

m  
 
 
  
m 

      
m 
     
m
 
 
   
m  
m 
 
m   


‘
Type V:

u clinically similar to Type IV OI in appearance and


symptoms
u a dense band seen on x rays adjacent to the growth
plate of the long bones
u unusually large calluses, called hypertrophic
calluses, at the sites of fractures or surgical
procedures (A callus is an area of new bone that is
laid down at the fracture site as part of the healing
process.)
u calcification of the membrane between the radius and
ulna (the bones of the forearm), which leads to
restriction of forearm rotation
u sclera normal in color (i.e., white or near-white)
u normal teeth ³mesh-like´ appearance to bone when
viewed under the microscope
u dominant inheritance pattern

‘
Type VI:

u clinically similar to Type IV OI in appearance and


symptoms
u slightly elevated activity level of alkaline phosphatase
(an enzyme linked to bone formation), which can be
determined by a blood test
u distinctive ³fish-scale´ appearance to bone when viewed
under the microscope
u diagnosed by bone biopsy
u unknown whether this form is inherited in a dominant or
recessive manner, but researchers believe the mode of
inheritance is most likely recessive
u eight people identified with this type of OI to date

‘
Type VII:

u resembles Type IV OI in many aspects of appearance


and symptoms in the first described cases
u in other instances, similar appearance and symptoms to
Type II lethal OI, except infants had white sclera, a small
head, and a round face
u small stature
u short humerus (arm bone) and short femur (upper leg
bone)
u coxa vara (a deformed hip joint in which the neck of the
femur is bent downward) is common; the acutely angled
femur head affects the hip socket
u results from recessive inheritance of a mutation in the
CRTAP gene. Partial (10 percent) expression of CRTAP
leads to moderate bone dysplasia. Total absence of the
cartilage-associated protein has been lethal in all
identified cases

 ‘! ‘

u‘   ‘   ‘  ‘ ‘ ‘  ‘ ‘ " ‘  ‘  ‘
‘  ‘  ‘  ‘  ‘  ‘  ‘
u‘  ‘   ‘    ‘
u‘  ‘ #  ‘    $‘
u‘  ‘ ‘   ‘ ‘  ‘     ‘  ‘  ‘

   ‘    ‘  ‘ ‘  ‘ ‘  ‘ %&'(&)‘


 ‘
‘

‘
Y  
Y  
  Y
u  Y  
 

u
Y  #     # # 
       * ]+
      !  
 è        
      !
        -
  
÷       "     
  .      
    
     "        
         !
   
u        
  !  
  
       
  ! !#   # #
  " $ 
   
M       ! 
 #  &  !/  
      M  ]   "
  " !       
-
D   
D   *  # #  +
D     * !      
+
D 
D   
D  !       
-

  
 "  #    !     
 *!+# !        
  
 
            
Ô        
      ÷

   
Ô !u÷


  0   
  M- Ô 
)1 ] ]
]]  ] )] 2
!  ÷Ô
÷ 
D     
D   "#  D    
D      "$"%%$ D   *" 
D      D    
D        D       
  
D     
D     
D        Ô 
   D     
  D     
D      D ÷   
D ÷  

D ÷    " &
D u      "'(&"&
D     #")
D u  u  u   "(&"&
D      u !  
 
 -

 3 
÷  
 - ! %4# '(%(
 &- M
 c- M# #
]
  - 5 
 ! - 

 -  


  c- ! %4# '(%(
  -  %# '(%(
  c- 4-6% cM
 c - 3

   %7 
%(  ! 3#
 8 97"94 
c :
:
0 8 '  : c c 

  
   - 
] 
 c  -  5
÷÷ ÔÔ
    $ )     
               !  
                
           !   
            
      !          
                !
   +     +      
 ,         + !     
           
              
  !    Ô         
              !
         ,   
      Ô       u !  
          u !   ! 
'$"        Ô    
             
            !
uÔ÷
     ; ! 
  "      
            
 !          
 #         c
         
  c   ; # 
   !#       < 
 =#        ;  ]  
      )!#  
    !  " 
     )     
       c   
        
      ;  
""÷u÷,÷Ô 
)1c3) 1 1] -

 -
            .
  #           
      !
    
         
c  !       ! 
   M ;   
     &     
            
   

 -
       !   
        ;  
&    !       
   .   !
 ]] -

 -
              
 !           
           
   

 -
  ;    #      
           "
        #     
   %'   #   c   
 )            
5       >"%(    ! 
              
       '7    
 
 3 # >"%(  %-'  !   
          %%'(%(#  c
      >"%>  M5#   %%'%%(# 
   %>"9(  M5      
      
311  1 c1 -

 -
 ;            
%"'        1!    # 
              
 -
             
             >"7  
  !        
 &            
  )!#     !      
 !        #   
             ! 
  
 0
 3 #            
!    '(  )  .     
              
 #          
      !      
 !          
             
13]M]c]  c1 -

 -
 M   !  '"9          
     )!# %  c# 
             ! 
 $   %"'      

 -
 M  !   6((">(( ! 4    
      "      
  '            #  
 !         ! %"'&
    $         
   '         


 3 #    #      
      !#  
 %(       ! 6 #   
        c     
!
c]]2 c1 -

 -
           
              
            !
      &        
    !

 -
               c
    #       
              
                 
         !  )!# 
         &  
  
 
 3       &     
  &#     !       
!       . !     
       $     !
6"4             
31" 13c] )]-

 -
             
 !            ! 
&           M     
!     ;     c   #
   !   #    #   
 !        c  #
            
  !       
   
#   !    !     
         

 -
 )    !   ;  )    
 !     ;      
          1!  
    #    !     
             
 c    !        
       
c31 ?
13]15 c1 -

 -
         
        
   

 -
   #         
            !
  $    !    
  !   !     
)!#   !  !   
       #      
  !     3   ! 
       
 ]]1 c1 -
        
      
       
   cc
  
      
      

 1 c1 -
       
      
!   !   
    #   
         
 c    #
     !
      !
        
      
135"1 1]  c1 -

 -
       :  !  
     &     
 ! !  c

 -
 c        #   
 .       ! 
           
          
     
    
     #         
!  ;  #    #  
           
  !     !     
            
#       #  #  3

1@c3] ]c3 c1 -

 -
              
  #    6"7&# !    

 -
      
]]] )2]c3 1@cM]c] 
! '(# '(%(

 Ô÷uÔè÷
  Ô 

 -
 0-' 
 - 94 4 A
  - %9( 
 - >B  
]- 3c
c 2 13 

 3 
ü  è     Ô 

u  ""
"%
"&

 -  
     &"  !  
     # 
  !    !

        &


  
 5
 M        
31
 1]10 5 )1 21M
÷u ÷Ô÷


]  #   !   ] 


      
   * +  
    c . !  
]        !   
       ] 
.!   !#   
  % ]#    !  
      
      !
      #
     
     
     ! 
 Y  
÷   

  
G   



„ 

      
] !
      !     
         
 3 # 
       !           
$  &   
 u÷ Ô ÷ ÷Ô Ô÷
       '                   ' 
         !            
÷
                   
                      
                        
         (/       
                            
 (        
       !÷Ô
         
u÷   $%
      ÷            
   +$  !       
     ÷  +         
                 
  ,     ! !    

  
ü(!.
*'!'/    ÷(           
"*&
   &!) "Ô       
)%
          
     
    
  

   ÷          


             
          Ô 
      
 

u              


       

             


           
  
  
   .!         !   . # 
     !   ;          
   !             
 ]       #      
  ]
 3 ; #            
!      
 u÷ Ô ÷ ÷Ô Ô÷
   
  ( *                    ( * 
        !         
÷                       
                 
            
        ÷           
                           
                       
                     
              !      
          
   !   ÷               !
      ÷Ô
      
ü(!.
*'!'/         0    
"*&         
)%      
  

          


÷     0     
          
    
     !

             


        
  
   
               ;
   !      !    #    
        # !   !    
    !           ]
 3
#  !                
  
 u÷ Ô  ÷Ô Ô÷
÷
1        
                 ' 
                0   
           
÷   (/          
              
      *'!'/      *'!'/ 
           *.!.!
      ÷Ô
          ÷(    
        
   &!) "Ô    
ü(!.     ÷(
*'!'/  
"*&
)%    +     
      

       
         
        
   
  
  
  &!()   
 +$       
       

  
          !   
              
 !  !      !  ! ! 
    !!           ]  # 
       !     
 u÷ Ô ÷ ÷Ô Ô÷
     "      !         " 
 
             
÷            
           ,÷   ,÷  
            ,            
                     
ü(!.      !    !     
*'!'/  +      +    
"*&            +   
)%           
       ,        
           
       
Ô !     ÷           
                 
          Ô !÷Ô
              
     !   
   

            


      
   
    
   

         


    
G   
 
÷
M  
MI
    .  !    ]   
    !       
    ;         
 
         ) 
 
 3 ;      
#        !     
# M             
    ;       !   
     
  Ô   
c   !    !          
!                 
;        ]  
 3 ;     #
            !       #  
        <=       

 3 ;          
             
   # 1 11] ]M1 51c  #      
    #     ! !      
 u÷ Ô ÷ ÷Ô Ô÷
                          
               
÷  
        
           
  ,    u            
                             
                    
                   
                 
     (/               
                 
                    
          
       
           
             
         
            
        
   
                  
          
           
        
u   
]       !         
   !       
 3 ;
#  #            
             
  #              
                 
 u÷ Ô ÷ ÷Ô Ô÷
   u    '                 ' 
              !         
   2                     
             !   
           
÷         u             0 !   
             ,       
     !             !   
 +          
                       

                      
        !    !     
          !
               
                     
            0     
 !             
÷            !   
                     
              ! 
        !   
                 
 !              
3             !  +        
                 
+       +       
  +         !
         !
       
  ÷          
         
  
         !
         
                
$         
 3 ; 
! &          
          !
 u÷ Ô ÷ ÷Ô Ô÷

      '          ,  ' 
    ÷    ÷   
÷          
                            
               
                  
     !     ,    +       
u ,            
             
    !     
               !
   ÷,    
            
          
  
   ,    
        
           
     ,  
        
      
  !        
      
       
      
        
 Ô ,   
    
!u Ô
Ô

)1 1C

÷ÔD