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 |