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. 2012 Jun 12;13:44. doi: 10.1186/1471-2350-13-44

Table 2.

Skeletal malformations observed in families with AMDM

Family Organs Clinical Features Radiological Features
A
Long bones
Short middle and distal segments
Ulna shorter than radius, bilateral triangular distal epiphysis and bowing of the radius
 
Hands and feet
Short and broad fingers with redundant skin
Short and broad phalanges. Short and stubby metacarpal and metatarsal bones.
 
Vertebral abnormalities
 
Mild reduction in the heights of the vertebral bodies in the thoracic and lumbar spine (Mild platyspondyly)
B
Long bones
Short middle and distal segments
Ulna shorter than radius, bowing of the radius
 
Hands and feet
Extremely short and broad fingers with redundant skin
Short and broad phalanges, metacarpal and metatarsal bones
 
Vertebral abnormalities
 
Not available
C
Long bones
Short and misshaped middle and distal segments
Not available
 
Hands and feet
Extremely short and broad fingers with redundant skin, great toe relatively large
Not available
 
Vertebral abnormalities
 
Not available
D
Long bones
Short middle and distal segments
Ulna shorter than radius, bilateral triangular distal epiphysis and bowing of the radius
 
Hands and feet
Short and broad fingers with redundant skin
Short and broad phalanges, metacarpal and metatarsal bones
 
Vertebral abnormalities
 
Reduction in the heights in the thoracic and lumbar spine (Mild platyspondyly)
E
Long bones
Short and misshaped middle and distal segments
Not available
 
Hands and feet
Short and broad fingers with slight redundant skin
Not available
 
Vertebral abnormalities
 
Not available
F
Long bones
Short and misshaped middle and distal segments
Ulna shorter than radius, bilateral triangular distal appearance of epiphysis and bowing of the radius
 
Hands and feet
Short and broad fingers with redundant skin, great toe relatively large
Short and broad phalanges, metacarpal and metatarsal bones
 
Vertebral abnormalities
 
Mild reduction in the heights of the vertebral bodies in the thoracic and lumbar spine (Mild platyspondyly)
  Face Long face