KNIEST SYNDROME

Kniest syndrome (metatrophic dwarfism type II, pseudometatrophic dwarfism) is a skeletal dysplasia characterized by abnormalities of the:

• Tubular bones.
• Spinal involvement.
• Platyspondyly.
• Coronal cleft.
• Long bones are short and have metaphyseal enlargement.
• Short and broad thorax.
• Facial features include a flat midface, flat nasal bridge, wide-set eyes and cleft palate.

DIFFERENTIAL DIAGNOSIS

• Metatrophic dysplasia.

REFERENCES

1. Chen H, Yang SS, Gonzalez E. Kniest dysplasia: Neonatal death with necropsy. Am J Med Genet 1980;6:171.
2. Bowerman RA. Anomalies of the fetal skeleton: Sonographic findings. AJR 1995;164:973-979.