Bone and Soft-Tissue Disorders
= autosomal recessive lethal short-limb skeletal dysplasia
Prevalence: 5 cases
- severe micromelia + broad dumbbell-shaped metaphyses
- flat + clefted pear-shaped vertebral bodies
- short + cupped ribs
- frontal bossing
- low-set abnormally formed ears
Prognosis: stillbirth / death shortly after birth
DDx:
- Thanatophoric dysplasia
- Metatropic dysplasia
- Spondyloepiphyseal dysplasia