Spondyloepiphyseal Dysplasia Congenita

Synonyms: SED-Congenita, SEDc

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 that are caused by genetic mutations in types I and II collagen.

Coxa Vara: a novel measurement technique in skeletal dysplasias
Source/Author: Oh CW, Thacker MM, Mackenzie WG, Riddle EC
Journal article for orthopedists who follow patients with SEDC and SEMD. 
Full text article available by contacting [email protected]

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]

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. 
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. 
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.

Growth chart: Male and Female Spondyloepiphyseal dysplasia congenita
Source/Author: WA Horton et al 
Growth chart for children (males and females) with SEDc.

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 
Case report of newborn thought to have inherited pseudoachondroplasia from one parent and SEDc from the other parent.

Lung hypoplasia and severe pulmonary hypertension in an infant with double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia.
Source/Author: Gunthard J, Fliegel C, Ohnacker H, Rutishauser M, Buhler E.; Clin Genet. 1995 Jul;48(1):35-40. 
Case report of newborn with achondroplasia and SEDc.

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

Neurological Considerations in Short Stature
Source/Author: Orest Hurko, MD, LPA Medical Advisory Board
Support Group
Article written in lay terms about the most common neurological problems for individuals of short stature. 

Patient Guide to Spondyloepiphyseal Dysplasia Congenita
Source/Author: Paul Sponseller, Michael Ain, Nancy Miller, Michael Bank. Dept of Orthopedic Surgery, Johns Hopkins.
Web-based (lay)
Article in lay terms on the cause, incidence, diagnosis and natural history of SEDc. 

Spondylo-epiphyseal Dysplasia
Source/Author: Scott, Charles; Alfred I. duPont Hospital for Children/Nemours
Medical Review
Excellent overview of these conditions including: how it happens, its genetics, physical features, diagnosis, medical management, prognosis, etc.

Spondyloepiphyseal dysplasia 
Source/Author: M. le Merrer, M.D.; Orphanet 
Web-based (medical)
Brief overview of this group of conditions, scientific citations, clinical features and other web sites

Spondyloepiphyseal Dysplasia Congenita 
Source/Author: Wheeless' Textbook of Orthopaedics 
Web-based (medical)
Brief overview of the clinical features and orthopedic problems of this condition.

Spondyloepiphyseal Dysplasia Congenita (SEDC) 
Source/Author: Ronna Griggs, PhD, individual with SEDC 
Web-based (lay)
Click on Spondyloepiphyseal Dysplasia in opening paragraph General information and frequently asked questions about SEDC

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

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.

Medical information - Spondylo-epiphyseal dysplasia (SED)
Source/Author: Restricted Growth Association 
Support Group
Very brief overview of this condition. To find article, go to MEDICAL INFORMATION and then select spondyloepiphyseal dypslasia.