Kniest Dysplasia

Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update.
Source/Author: Lachman RS, Tiller GE, Graham JM Jr, Rimoin DL. Eur J Radiol. 1992 Jan-Feb;14(1):1-10.
Discussion of the skeletal dysplasias caused by genetic mutations in types I and II collagen.

Coxa vara in chondrodysplasia: prognosis study of 35 hips in 19 children.
Source/Author: Trigui M, Pannier S, Finidori G, Padovani JP, Glorion C
Overview of this orthopedic condition in multiple skeletal dysplasias
Full text article available by contacting [email protected]

Source/Author: OMIM, Online Mendelian Inheritance in Man
Web-based (medical)
Medical/Scientific description of Kniest syndrome with emphasis on the genetics of the condition

Kniest dysplasia
Source/Author: Scott, Charles; Alfred I. duPont Hospital for Children/Nemours
Medical Review
Excellent overview of this condition including: how it happens, its genetics, physical features, diagnosis, medical management, etc.

Kniest syndrome
Source/Author: National Organization of Rare Diseases
Web-based (medical)
Brief description of the clinical features/characteristics, medical complications and genetics of this condition.

Natural History: Kniest dysplasia
Source/Author: Richard M. Pauli, M.D., Ph.D.
Medical Review
Review of the various medical complications that can occur with Kniest dysplasia and discussion on what is appropriate for monitoring and interventions. Written in medical terms. Original documents can be ordered from the Midwest Regional Bone Dysplasia Clinic.

The type II collagenopathies: a spectrum of chondrodysplasias.
Source/Author: Spranger J, Winterpacht A, Zabel B. Eur J Pediatr. 1994 Feb;153(2):56-65.
Discussion of a group of disorders caused by mutations in type II collagen including achondrogenesis II, hypochondrogenesis, spondyloepiphyseal dysplasia congenita, Kniest dysplasia, Stickler arthroophthalmopathy and mild dominant spondyloarthropathy