Heather Borders, MD
over 7 years ago
Please choose a workflow. A standard workflow allows you to browse the repository with full case detail; the academic workflow allows you to browse the repository with limited case detail revealed. Double click on the images to launch image viewer.
Joseph Junewick, MD FACR
|Diagnostic Category: Developmental or Congenital
|Created: over 7 years ago
|Updated: over 7 years ago
Child with short stature and dysmorphic features.
CR – Platyspondyly with broad ilia and large hip and knee joints.
Kniest dysplasia is an autosomal dominant collagenopathy related to mutation in the COL2A1 gene. Patients have a peculiar face with flat midface, depressed nasal bridge and shallow orbits. The trunk is short and broad with dorsal kyphosis and protuberant sternum. The extremities are short with prominant joints.
Multiple abnormalities are seen on skeletal survey. There is platyspondyly with anterior wedging; occasionally there are coronal clefts in infancy. The ilia are broad with hypoplasia of the basilar portions. The femoral necks are short and wide; the femoral heads ossify late but eventually are large and flat. The knee joints are large. The short tubular bones have broad metaphyses and deformed epiphyses.
During infancy, club feet, cleft palate, otitis media and retinal detachment may be seen. Joint contractures, spinal deformity, and premature arthropathy are common long term problems.
Spranger JW, Brill PW, Poznanski AK. Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development, 2nd Ed. Oxford University Press 2002.