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 |