FIBROCHONDROGENESIS

Fibrochondrogenesis is an autosomal recessive lethal short- limbed skeletal dysplasia.

ULTRASOUND

• Severe micromelia.
• Rhizomelic limb shortening.
• Short, broad dumbell-shaped metaphyses.
• Pear shaped vertebral bodies.
• Short, distally cupped ribs.

REFERENCES

1. Eteson DJ, Adomian GE, Ornoy A et.al. Fibrochondrogenesis: Radiologic and histologic studies. Am J Med Genet 1984;19:277.
2. Whitley CB, Langer LO, Ophoven J et.al. Fibrochondrogenesis: Lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology. Am J Med Genet 1984;19:265.