Skip to main content

Advertisement

Table 2 Skeletal malformations observed in families with AMDM

From: Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux

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