Skeletal Dysplasias

Approaches To Differential Diagnosis In Musculoskeletal Imaging: Skeletal Dysplasias
Source/Author: Michael L. Richardson, M.D. 
Web-based (medical)
Article on using x-rays/diagnostic imaging to diagnose skeletal dysplasias.

Best Practice Guidelines regarding Prenatal Evaluation and Delivery of Patients with Skeletal Dysplasia
Source/Author: Skeletal Dysplasia Management Consortium
Journal Abstract
Abstract of article regarding recommendations for caring for pregnant women with skeletal dysplasias and unborn children that are identified as possibly having a skeletal dysplasia. 

Bone dysplasias in man: molecular insights.
Source/Author: Francomano CA, McIntosh I, Wilkin DJ. Curr Opin Genet Dev. 1996 Jun;6(3):301-8. 
Overview of the (then understood) molecular genetics of skeletal dysplasias.

Definitions of skeletal dysplasia-related words
Source/Author: Scott, Charles; Alfred I. duPont Hospital for Children/Nemours
Web-based (lay)
Glossary of medical terminology used in describing the skeletal dysplasias and their medical complications.

Molecular genetic basis of the human chondrodysplasias
Source/Author: Horton WA. Endocrinol Metab Clin North Am. 1996 Sep;25(3):683-97 
Review and update on the genetic mechanisms of the skeletal dysplasias.

Neurologic abnormalities in the skeletal dysplasias: a clinical and radiological perspective.
Source/Author: Lachman RS. Am J Med Genet. 1997 Mar 3;69(1):33-43. 
A review of the neurologic manifestations of the skeletal dysplasias focusing on achondroplasia, type II collagenopathies and craniotubular and sclerosing bone dysplasias.

Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision
Source/Author: Warman ML and the Nosology Group of the International Skeletal Dysplasia Society
Full text
Updated classification of the over 400 skeletal dysplasias.

Prenatal diagnosis of genetic osteochondrodysplasias.
Source/Author: Kelly TE, Hall JG, Horton W, Scott CI. 
Full text article available by contacting [email protected]

Skeletal Dysplasia
Source/Author: Harold Chen, MD, MS, FAAP, FACMG; E-medicine 
Web-based (medical)
General overview of the skeletal dysplasias. Detailed discussion of this group of conditions in medical terminology. Includes diagnosis, clinical description, differential diagnosis, management, genetic counseling, molecular genetics, resources

The natural histories of bone dysplasias in adults - Vignettes, fables and just-so stories
Source/Author: Richard M. Pauli 
Full text
Examples of medical and adaptive issues in adults affected with skeletal dysplasias. 

The skeletal dysplasias.
Source/Author: Savarirayan R, Rimoin DL. Best Pract Res Clin Endocrinol Metab. 2002 Sep;16(3):547-60. 
Overview of the classification, genetics and management of the skeletal dysplasias.

Orthopedic aspects of skeletal dysplasia in children.
Source/Author: Morcuende JA. Curr Opin Pediatr. 1993 Jun;5(3):363-7. 
Discusses orthopedic issues and possible treatments for the skeletal dysplasias, including extensive limb lengthening, growth hormone therapy and enzyme replacement therapy.