Osteogenesis Imperfecta

Synonyms: OI

A New Osteogenesis Imperfecta with Improvement over time Maps to 11q
Source/Author: Kamoun-Goldrat A, Pannier S, Huber C, Finidori, G, Munnich A, Cormier-Daire V, Le Merrer M. 
Abstract
Discussion of a new form of OI (2008)
Full text article available by contacting [email protected]

About Osteogenesis Imperfecta
Source/Author: Osteogenesis Imperfecta Foundation (OIF) 
Support Group
Basic information on OI and related health and medical issues including a description of OI, diagnosis & testing, related medical issues and fact sheets. All written in lay terms.

Alendronate treatment in children with osteogenesis imperfecta.
Source/Author: Akcay T, Turan S, Guran T, Bereket A
Full text
Indian study on use of oral form of bisphosphonate in children with OI as young as 1.8 years.

Basilar impression and osteogenesis imperfecta: a 21-year retrospective review of outcomes in 20 patients.
Source/Author: Ibrahim AG, Crockard HA. 
Abstract
Review article on the clinical finding in OI.

Basilar invagination in osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management.
Source/Author: PAUL D. SAWIN, M.D. and ARNOLD H. MENEZES, M.D. 
Abstract
Article about treating a rare complication in OI and spondyloepiphyseal dysplasia.

Bisphosphonate therapy for osteogenesis imperfecta.
Source/Author: Phillipi CA, Remmington t, Steiner RD
Abstract
Medical review article on the use of bisphosphonate therapy in OI. 
Full text article available by contacting [email protected]

Brainstem and cerebellar hypoplasia associated with osteogenesis imperfecta type-5.
Source/Author: Syamlal S, Shine S, Kunju M. 
Full text 
Article on this neurological finding in one patient with OI type V.

CLINICAL AND RADIOLOGICAL FEATURES CORRELATING TO AMBULATORY ABILITY IN OSTEOGENESIS IMPERFECTA
Source/Author: MASAFUMI HOMMA, M.D., Research Fellow of Orthopaedic Surgery; RICHARD W KRUSE, M.D., Attending Pediatric Orthopaedic Surgeon CLINICAL CASE PRESENTATION ORTHOPAEDIC DEPARTMENT THE ALFRED I. DUPONT INSTITUTE WILMINGTON, DELAWARE 
Web-based (medical)
With X-rays Some of the information is specific to the patient and may not apply to everyone with this condition.

Clinical and radiological manifestations of osteogenesis imperfecta type V.
Source/Author: Lee DY, Cho TJ, Choi IH, Chung CY, Yoo WJ, Kim JH, Park YK. 
Full text
Article discussing the clinical (physical) and radiological (x-ray) characteristics of OI type V.

Source/Author: Robert D Steiner, MD, Jessica Adsit, MS, CGC, and Donald Basel, MD. - GeneReviews
Medical Review
Detailed, numerous hyperlinks. Discusses: Diagnosis; Clinical Description; Differential Diagnosis; Management; Genetic Counseling; Molecular Genetics; Resources.

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.  
Abstract
Discussion of the skeletal dysplasias that are caused by genetic mutations in types I and II collagen.

Double heterozygosity in bone growth disorders: four new observations and review.
Source/Author: Flynn MA, Pauli RM. 
Abstract
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.

Experience with bisphosphonates in osteogenesis imperfecta.
Source/Author: Glorieux FH. 
Full text
Review of findings from 14 years of study of using bisphosphonates in patients with OI.

Information Kit for Medical Professionals
Source/Author: Osteogenesis Imperfecta Foundation (OIF) 
Support Group
A wealth of information for physicians and other health care providers on OI including fact sheets, physician and clinic list, therapeutic strategies and bibliography. Information written in medical terminology

L'osteogenese impartfaite
Source/Author: Orphanet 
Web-based (medical)
IN FRENCH. 
Detailed overview of this condition in medical terminology.

Living With Osteogenesis Imperfecta
Source/Author: Osteogenesis Imperfecta Foundation (OIF) 
Support Group
Information written about living with OI in the various life stages (childhood, adolescence, adulthood) and for family members (parents, siblings, etc)

Managing Medical Care When Your Child Has OI
Source/Author: Daniel Wright, CFP, OI Breakthrough Newsletter
Support Group
Good overview of how to manage the medical care of a child with a complex medical condition such as OI. 

Medical Treatments and Research Information
Source/Author: Osteogenesis Imperfecta Foundation (OIF) 
Support Group
Information on medical treatments, clinics for OI and research on potential treatments for OI.

Osteogenesis Imperfecta
Source/Author: Francis H. Glorieux
Abstract
Excellent overview on this group of conditions. 
Full text article available by contacting [email protected]

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

Osteogenesis imperfecta
Source/Author: Geneva Foundation for Medical Education and Research 
Web-based (medical)
X-rays, photographs and links to articles on this condition.

Osteogenesis Imperfecta
Source/Author: Pediatric Orthopaedic Society of North America. 
Web-based (medical)
Discussion on genetics and orthopedic issues in this condition. Treatment options also briefly discussed.

Osteogenesis imperfecta
Source/Author: Guillaume Chevrel, Orphanet 
Web-based (medical)
Detailed overview of this condition in medical terminology.

Osteogenesis Imperfecta (OI)
Source/Author: Kennedy Krieger Institute 
Basic information about OI & Kennedy Krieger's clinic

Osteogenesis Imperfecta chart: Height for age. Boys and Girls
Source/Author: Frank Rauch, MD
Growth chart
Charts showing the 50th% line for growth in boys and girls with OI types I, III, and IV. Each type of OI has a graph for each sex

Osteogenesis Imperfecta chart: Weight for age. Boys and Girls
Source/Author: Frank Rauch, MD
Growth chart
Charts showing the 50th% line for weight in boys and girls with OI types I, III, and IV. Each type of OI has a graph for each sex.

Osteogenesis Imperfecta: Clinical and Molecular Diversity
Source/Author: Roughley PJ, Rauch F, Glorieux FH
Full text
Medical journal article discussing the huge clinical and genetic variability within this condition (or group of conditions). 

Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect.
Source/Author: Glorieux FH, Ward LM, Rauch F, Lalic L, Roughley PJ, Travers R. 
Abstract
A newly described form of osteogenesis imperfecta. 
Full article available by contacting [email protected]

Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease.
Source/Author: Ward LM, Rauch F, Travers R, Chabot G, Azouz EM, Lalic L, Roughley PJ, Glorieux FH. 
Abstract
Article on a rare recessive form of OI. 
Full text article available by contacting [email protected].

Osteogenesis imperfecta, current and future medical treatment.
Source/Author: Rauch F, Glorieux FH. 
Full text
Medical journal review article on treatments for OI.

OSTEOGENESIS IMPERFECTA, TYPE I
Source/Author: OMIM, Online Mendelian Inheritance in Man 
Web-based (medical)
Medical/Scientific description of OI, type I, with emphasis on the genetics of the condition

OSTEOGENESIS IMPERFECTA, TYPE IIA
OSTEOGENESIS IMPERFECTA, TYPE IIB
Source/Author: OMIM, Online Mendelian Inheritance in Man
Web-based (medical)
Medical/Scientific description of OI types IIA (autosomal dominant) & IIB (autosomal recessive) with emphasis on the genetics of the condition

Osteogenesis imperfecta, type II
Source/Author: Geneva Foundation for Medical Education and Research 
Web-based (medical)
X-rays, photographs and links to articles.

OSTEOGENESIS IMPERFECTA, TYPE III
Source/Author: OMIM, Online Mendelian Inheritance in Man 
Web-based (medical)
Medical/Scientific description of OI type III with emphasis on the genetics of the condition

OSTEOGENESIS IMPERFECTA, TYPE IV
Source/Author: OMIM, Online Mendelian Inheritance in Man 
Web-based (medical)
Medical/Scientific description of OI type IV with emphasis on the genetics of the condition

Osteogenesis imperfecta, type IV
Source/Author: Geneva Foundation for Medical Education and Research 
Web-based (medical)
X-rays, MRIs, photographs and links to articles.

OSTEOGENESIS IMPERFECTA, TYPE V
Source/Author: OMIM, Online Mendelian Inheritance in Man 
Web-based (medical)
Medical/Scientific description of OI type V with emphasis on the genetics of the condition

OSTEOGENESIS IMPERFECTA, TYPE VI
Source/Author: OMIM, Online Mendelian Inheritance in Man 
Web-based (medical)
Medical/Scientific description of OI type VI with emphasis on the genetics of the condition

OSTEOGENESIS IMPERFECTA, TYPE VII
Source/Author: OMIM, Online Mendelian Inheritance in Man 
Web-based (medical)
Medical/Scientific description of OI type VII with emphasis on the genetics of the condition.

Patient Guide to Osteogenesis Imperfecta (OI)
Source/Author: Johns Hopkins Department of Orthopedic Surgery
Web-based (lay)
Article written in lay terms about OI, including a discussion of severity, treatment, surgeries and natural history.

Pamidronate in children and adolescents with osteogenesis imperfecta: effect of treatment discontinuation.
Source/Author: Rauch F, Munns C, Land C, Glorieux FH. 
Full text
Medical journal article discussing the impact on patients with OI who stop receiving Pamidronate treatments.

QUE ES LA OSTEOGENESIS IMPERFECTA
Source/Author: Asociacion Hueso de Cristal de Espana 
Web-based (medical)
IN SPANISH
Detailed overview of this condition in lay terms

Radiographic Characteristics of Lower-Extremity Bowing in Children
Source/Author: Jugesh I. Cheema, MD, Leslie E. Grissom, MD and H. Theodore Harcke, MD 
Web-based (medical)
Article discussing how to differentiate between bowing due to different medical conditions based on x-ray findings.

The Osteogenesis Imperfecta Clinic at Kennedy Krieger Institute
Source/Author: Location: Baltimore, Maryland 
Web-based (medical)
Brief Overview: Osteogenesis Imperfecta What causes OI? How severe is OI? What is life like for individuals with OI?

Type V osteogenesis imperfecta: a new form of brittle bone disease.
Source/Author: Glorieux FH, Rauch F, Plotkin H, Ward L, Travers R, Roughley P, Lalic L, Glorieux DF, Fassier F, Bishop NJ. 
Abstract
Article on a relatively rare form of Osteogenesis Imperfecta. 
Full article can be obtained by contacting [email protected]