Spondyloepiphyseal dysplasia
Type
Disproportionate dwarfism with a short trunk
Problems with dwarfism, spine, vision and hearing
Definition
Primary involvement of vertebrae & epiphyseal centres of limbs
Resulting short-trunk dwarfism
- Limb are short, but trunk is even shorter
(cf Metaphyseal Chondrodysplasia - Short limbed Dwarf)
Types