Autosomal recessive chondrodysplasia.
Macroscopical synopsis
marked micromelic dwarfism
hydrops
polyhydramnios
stillborn
neonatal death
large head
short trunk
flat nasal bridge
short nose
anteverted nares
short neck
barrel-shaped chest
short ribs
fractured ribs
beaded ribs
short, wide clavicles
hypoplastic scapulae
protuberant abdomen
poorly ossified skull
unossified vertebral bodies
cervical and upper thoracic pedicles ossified
pubic bones ossified
arched ilium
hypoplastic ischium
micromelia
wedged-shape femur with proximal metaphyseal spike
short broad tibia
short radius
unossified hands
unossified feet
micromelia
absence of ossification of vertebral bodies, calvarium, pelvic bones (sacrum, ischial and pubic bone)
multiple fractures
- costal fractures (rib fractures)
Microscopical synopsis
resting chondrocytes frequently contain characteristic large PAS-positive, diastase resistant cytoplasmic inclusions (spherical or oval, lying within membrane-bound vacuoles) (chondrocytic inclusions)
poorly defined physeal growth plate with disorganization and minimal proliferation of the chondrocytes
Differential diagnosis
chondrocytic inclusions
- achondrogenesis type 1A
- spondyloepiphyseal dysplasia congenita
- Kniest dysplasia
- pseudochondroplasia
- short-rib dysplasia type 3 (type III)
See also
achondrogeneses