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 |