Osteogenesis imperfecta historical perspective

Osteogenesis imperfecta Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Osteogenesis imperfecta from other Diseases

Epidemiology and Demographics

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

X-ray

Other Imaging Findings

Treatment

Medical Therapy

Surgery

Case Studies

Case #1

Osteogenesis imperfecta historical perspective On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

slides

Images

American Roentgen Ray Society Images of Osteogenesis imperfecta historical perspective

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Osteogenesis imperfecta historical perspective

CDC on Osteogenesis imperfecta historical perspective

Osteogenesis imperfecta historical perspective in the news

Blogs on Osteogenesis imperfecta historical perspective

Directions to Hospitals Treating Osteogenesis imperfecta

Risk calculators and risk factors for Osteogenesis imperfecta historical perspective

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

## Overview[edit | edit source]

## Historical Perspective[edit | edit source]

The condition, or types of it, have had various other names over the years and in different nations. Among some of the most common alternatives are Ekman-Lobstein syndrome, Vrolik syndrome, and the colloquial glass-bone disease. The name "Osteogenesis Imperfecta" dates to at least 1895[1] and has been the usual medical term in the twentieth century to present. The current four type system began with Sillence in 1979.[2] An older system deemed less severe types "Osteogenesis Imperfecta Tarda" while more severe forms were deemed "Osteogenesis Imperfecta Congenita."[3] As this did not differentiate well, and all forms are congenital, this has since fallen out of favour.

The condition has been found in an Ancient Egyptian mummy from 1000 BC. The Norse king Ivar the Boneless may have had this condition as well. The earliest studies of it began in 1788 with the Swede Olof Jakob Ekman. He described the condition in his doctoral thesis and mentioned cases of it going back to 1678. In 1831, Edmund Axmann described it in himself and two brothers. Johann Friedrich Georg Christian Martin Lobstein dealt with it in adults in 1833. Willem Vrolik did work on the condition in the 1850s. The idea that the adult and newborn forms were the same came in 1897 with Martin Benno Schmidt.[4]

## References[edit | edit source]

1. ↑ K. Buday, Beiträge zur Lehre von der Osteogenesis imperfecta (1895)
2. ↑ Sillence DO, Senn A, Danks DM (1979). "Genetic heterogeneity in osteogenesis imperfecta". J. Med. Genet. 16 (2): 101–16. PMID 458828.CS1 maint: Multiple names: authors list (link)
3. ↑ "Osteogenesis Imperfecta Foundation: Glossary". Retrieved 2007-07-05.
4. ↑ Template:WhoNamedIt

* v
* t
* e

Congenital malformations and deformations of musculoskeletal system (Q65-Q79, 754-756)

Limbs|

hip: Dislocation of hip/Hip dysplasia \- Upington disease

feet (Club foot, Flat feet, Pes cavus)

systemic dislocations Larsen syndrome

head, face, spine and chest: skull, face and jaw (Dolichocephaly, Greig cephalopolysyndactyly syndrome, Plagiocephaly) - spine Scoliosis \- chest (Pectus excavatum, Pectus carinatum)

any combination head, face, jaw, upper limb, lower limb, pelvis, dactyly Antley-Bixler syndrome \- Schmitt Gillenwater Kelly syndrome

dactyly Polydactyly/Syndactyly (Webbed toes) - Cenani Lenz syndactylism

reduction deficits (Acheiropodia, Amelia, Ectrodactyly, Phocomelia)

upper limb (Cleidocranial dysostosis, Madelung's deformity, Sprengel's deformity, Wallis Zieff Goldblatt syndrome)

knee (Genu valgum, Genu varum)

other Arthrogryposis

Skull and facial bones|

Carpenter syndrome \- Craniodiaphyseal dysplasia \- Craniosynostosis (Scaphocephaly) - Crouzon syndrome \- Hypertelorism \- Macrocephaly \- Oxycephaly \- Platybasia \- Saethre-Chotzen syndrome \- Treacher Collins syndrome \- Trigonocephaly

Spine and bony thorax|

Klippel-Feil syndrome \- Spondylolisthesis \- Cervical rib \- Bifid rib

Osteochondrodysplasia|

developement of cartilage, tubular bones and spine: Achondrogenesis/Hypochondrogenesis \- Boomerang dysplasia \- Thanatophoric dysplasia \- Short rib-polydactyly syndrome \- Chondrodysplasia punctata (Rhizomelic chondrodysplasia punctata, Conradi-Hünermann syndrome), Achondroplasia (Hypochondroplasia, Osteosclerosis congenita) - Ellis-van Creveld syndrome \- Otospondylomegaepiphyseal dysplasia \- Spondyloepiphyseal dysplasia congenita
\- Osteogenesis imperfecta \- McCune-Albright syndrome \- Osteopetrosis \- Metaphyseal dysplasia \- Recessive multiple epiphyseal dysplasia \- Hereditary multiple exostoses \- Osteopoikilosis \- Chondrodystrophy \- Osteodystrophy \- Atelosteogenesis, type II \- Diastrophic dysplasia

Other|

abdominal wall (Congenital diaphragmatic hernia, Omphalocele, Gastroschisis, Prune belly syndrome) - Ehlers-Danlos syndrome

See also non-congenital conditions (M, 710-739)

Template:WikiDoc Sources
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template