Pseudoachondroplasia

COMP Mutations, Chondrocyte Function and Cartilage Matrix
Source/Author: Hecht JT, Hayes E, Haynes R, Cole WG. 
Web-based (medical)
Overview of the conditions - MED and pseudoachondroplasia - that are caused by mutations in the COMP gene.

Double Heterozygosity for Pseudoachondroplasia and Spondyloepiphyseal Dysplasia Congenita
Source/Author: Unger S, Korkko J, Krakow D, Lachman RS, Rimoin DL, Cohn DH.; Am J Med Genet. 2001 Nov 22;104(2):140-6. 
Web-based (medical)
Case report of a child with both pseudoachondroplasia and spondyloepiphyseal dysplasia. Discussion of molecular genetics and clinical outcome of child.

Double Heterozygosity in Bone Growth Disorders: Four New Observations and Review
Source/Author: Flynn MA, Pauli RM. 
Web-based (medical)
Reviews the following cases of double heterozygosity: achondroplasia & spondyloepiphyseal dysplasia congenita, achondroplasia & pseudoachondroplasia, achondroplasia & osteogenesis imperfecta type I, achondroplasia & hypochondroplasia, pseudoachondroplasia & spondyloepiphyseal dysplasia congenita, Leri-Weill Dyschondrosteosis & hypochondroplasia/achondroplasia, osteogenesis imperfecta & pseudoachondroplasia.

Lethal Skeletal Dysplasia Owing to Double Heterozygosity for Achondroplasia and Spondyloepiphyseal Dysplasia Congenita
Source/Author: Young ID, Ruggins NR, Somers JM, Zuccollo JM, Rutter N.; J Med Genet. 1992 Nov;29(11):831-3 
Web-based (medical)
Case report of newborn thought to have inherited pseudoachondroplasia from one parent and SEDc from the other parent.

Mosaicism in Pseudoachondroplasia
Source/Author: Ferguson HL, Deere M, Evans R, Rotta J, Hall JG, Hecht JT
Full text 
Article on the alternate inheritance pattern of pseudoachondroplasia.

Multilayered Patella: Similar Radiographic Findings in Pseudoachondroplasia and Recessive Multiple Epiphyseal Dysplasia
Source/Author: Varanavicharn, Lachman RS, Rimoin DL
Abstract
Medical journal article on a specific radiographic finding in multiple epiphyseal dysplasia and pseudoachondroplasia.
Full text article available by contacting [email protected]

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

Patient with Double Heterozygosity for Achondroplasia and Pseudoachondroplasia, with Comments on these Conditions and the Relationship Between Pseudoachondroplasia and Multiple Epiphyseal Dysplasia, Fairbank Type
Source/Author: Langer LO Jr, Schaefer GB, Wadsworth DT. 
Abstract
Case report of a patient with achondroplasia and pseudoachondroplasia. Also discussed the relationship between pseudoachondroplasia and MED, Fairbank type.

Pseudoachondroplasia
Source/Author: Michael D Briggs, PhD and Michael J Wright, MB, ChB, MSc, FRCP - GeneReviews 
Medical Review
Detailed, numerous hyperlinks. Discusses: Diagnosis; Clinical Description; Differential Diagnosis; Management; Genetic Counseling; Molecular Genetics; Resources.

Pseudoachondroplasia
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, prognosis,etc.

Pseudoachondroplasia
Source/Author: M. le Merrer, M.D.; Orphanet 
Web-based (medical)
Brief overview of the condition, scientific citations, clinical features and other web sites

Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: Mutation Review, Molecular Interactions, and Genotype to Phenotype Correlations
Source/Author: Briggs MD, Chapman KL. Hum Mutat. 2002 May;19(5):465-78. 
Abstract
Discussion of the gene mutations that cause MED and pseudoachondroplasia and the variability in clinical features that are seen.

Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: New Etiologic Developments
Source/Author: Unger S, Hecht JT. Am J Med Genet. 2001 Winter;106(4):244-50. 
Abstract
Discussion of the genetic etiology of MED and pseudoachondroplasia.

Pseudoachondroplasia Growth Chart: Male & Female Height
Source/Author: WA Horton et al 
Growth Chart
Height for age chart for children with pseudoachondroplasia. Heights need to be converted into centimeters.

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

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

Pseudoachondroplasia
Source/Author: Restricted Growth Association 
Support Group
Limited overview of this condition.