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achondrogenesis type 1A

Friday 19 January 2007

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