Osteogenesis imperfecta at the beginning of bone and joint decade (2024)

M. Mottes

2001, Croatian medical journal

Osteogenesis imperfecta (OI), or brittle bone disease, is a heritable disorder characterized by increased bone fragility. Four different types of the disease are commonly distinguished, ranging from a mild condition (type I) to a lethal one (type II). Types III and IV are the severe forms surviving the neonatal period. In most cases, there is a reduction in the production of normal type I collagen or the synthesis of abnormal collagen as a result of mutations in the type I collagen genes. These classic forms of OI are described in this review. There are instances, however, where alterations in bone matrix components, other than type I collagen, are the basic abnormalities of the OI. Recently, three such discrete types have been identified by histomorphometric evaluation (types V and VI) and linkage analysis (Rhizomelic OI). They provide evidence for the as yet poorly understood complexity of the phenotype-genotype correlation in OI. We also discuss bisphosphonates treatment as well ...

Related papers

Osteogenesis Imperfecta: a current overview of musculo-skeletal radiology and new genetic concepts

Ingeborg Barisic

Acta clinica Croatica

View PDFchevron_right

Update on the Evaluation and Treatment of Osteogenesis Imperfecta

Dang Khoa Tran

View PDFchevron_right

Pathophysiology and therapeutic options in osteogenesis imperfecta: an update

Evelise Brizola

Research and Reports in Endocrine Disorders, 2016

View PDFchevron_right

Cardiorespiratory complications in patients with osteogenesis imperfecta

Mirjana Turkalj

Paediatria Croatica, 2017

View PDFchevron_right

Osteogenesis imperfecta--multi-systemic and life-long disease that affects whole family

Ingeborg Barisic

Collegium antropologicum, 2014

Osteogenesis imperfecta or brittle bone disease, a heritable disorder of connective tissue, is the most common of the inherited disorders primarily affecting bone. There are approximately 400 individuals with OI in Croatia alone. It is estimated that twice that number is present, represented by individuals with mild OI in whom the diagnosis has not been made. Due to the relatively low number of patients in the general population, treating physicians have limited experience with this disease, either with children or adults. The basis of this disease in European populations is mostly the result of defects in the structure or processing of collagen type I, an important protein of the extracellular matrix of many tissues. Presently, molecular defects in 16 different genes have been discovered to result in at least one type of OI of which 14 are not COL1 mutation loci. Although fractures occurring with no injury or minor injury are the hallmark of OI, other non-mineralized tissues can be...

View PDFchevron_right

Estudo clínico e molecular em indivíduos com osteogênese imperfeita e análise do tratamento com bifosfonados

Evelise Brizola

2015

View PDFchevron_right

Challenges of Fracture Management for Adults With Osteogenesis Imperfecta

Aristides Cruz

Orthopedics, 2017

View PDFchevron_right

New perspectives on osteogenesis imperfecta

Antonella Forlino

Nature Reviews Endocrinology, 2011

Syndromes with congenital brittle bones

Horacio Plotkin

BMC Pediatrics, 2004

View PDFchevron_right

Osteogenesis imperfecta: forensic assessment of traumatic injuries. Case report and literature review

Sorin Hostiuc

Rom J Leg Med, 2008

View PDFchevron_right

Related papers

Translational Research in Osteogenesis Imperfecta and Cell Therapy

Vrisha Madhuri

2021

View PDFchevron_right

A Clinical Case of Osteogenesis Imperfect Type III, Determined by COL1A1 (P.GLY845ARG) Gene Mutation in a Newborn Girl

Ljudmila Brisevac

Neonatology, surgery and perinatal medicine

View PDFchevron_right

Osteogenesis imperfecta: primary care

Mangala De Zoysa

Pediatrics in review / American Academy of Pediatrics, 2010

View PDFchevron_right

Cervical kyphosis: A predominant feature of patients with osteogenesis imperfecta type 5

Suken Shah

Bone Reports, 2020

View PDFchevron_right

Molecular Diversity of Osteogenesis Imperfecta

Editor VISNAV

Visnav, 2021

View PDFchevron_right

Aspectos genéticos e terapêuticos da osteogênese imperfeita

Maria do Carmo Pimentel Batitucci

2018

View PDFchevron_right

Long-term follow-up in osteogenesis imperfecta type VI

Telma Palomo

Osteoporosis International, 2017

View PDFchevron_right

Conservative versus surgical treatment of osteogenesis imperfecta: a retrospective analysis of 29 patients

Benedetta Spazzoli

Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases, 2012

View PDFchevron_right

EC ORTHOPAEDICS EC ORTHOPAEDICS Case Study

liliana mejia

EC Orthopaedics 14.3 (2023): 30-34., 2022

View PDFchevron_right

The Spine in Patients With Osteogenesis Imperfecta

Suken Shah

The Journal of the American Academy of Orthopaedic Surgeons, 2017

View PDFchevron_right

Osteogenesis Imperfecta: A Case Series and Literature Review

Constanza Morales

Cureus

View PDFchevron_right

Recent developments in osteogenesis imperfecta [version 1; referees: 3 approved]

Joseph Shaker

F1000Research, 2015

View PDFchevron_right

Orthopedic Manifestations of Bruck Syndrome: A Case Series with Intermediate to Long-term Follow-Up

Geovanny Oleas Santillán

Case Reports in Orthopedics, 2019

View PDFchevron_right

Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease

E. Azouz

Bone, 2002

View PDFchevron_right

Orthodontic Treatment and Orthognathic Surgery for Patients with Osteogenesis Imperfecta

James Hartsfield

Seminars in Orthodontics, 2006

View PDFchevron_right

Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation

Philippe Campeau

Bone, 2019

View PDFchevron_right

Effect of Probiotic on the improvement of Ibuprofen-induced Gastric Mucosal Injury Model in Wistar Rats

andy darma

International Journal Of Scientific Advances

View PDFchevron_right

Assessment of telescoping nail in the management of long bones fractures and deformities in patients with osteogenesis imperfecta

amr arafa

International journal of health sciences

View PDFchevron_right

Telescopic Nail in Osteogenesis Imperfecta Early Experience in Nitor

MD. Kausarul Islam

Journal of Medical Science And clinical Research, 2020

View PDFchevron_right

COL1-Related Disorders: Case Report and Review of Overlapping Syndromes

Luca Sangiorgi

Frontiers in Genetics, 2021

View PDFchevron_right

Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management

Nipith Charoenngam

Genes

View PDFchevron_right

OSTEOGENESIS IMPERFECTA TYPE I REPORT OF TWO CASES (Atena Editora)

Atena Editora

OSTEOGENESIS IMPERFECTA TYPE I REPORT OF TWO CASES (Atena Editora), 2023

View PDFchevron_right

Brittle Bones, Unbreakable Spirit: Osteogenesis Imperfecta: A Case Report

prabir mandal

International Journal of Anatomy and Research, 2015

View PDFchevron_right

Osteogenesis imperfecta: a cross-sectional study of skeletal and extraskeletal features in a large cohort of Italian patients

Marina Mordenti

Frontiers in Endocrinology, 2024

View PDFchevron_right

A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents

Thantrira Porntaveetus

Genetics and Molecular Biology

View PDFchevron_right

Related topics

GeneticsGene TherapyMedicineHumansChildMutationMiceOsteogenesis ImperfectaPubmedAnimalsGenetic linkage analysisScoliosisType I CollagenGenetic TherapyMedical and Health Sciences

Osteogenesis imperfecta at the beginning of bone and joint decade (2024)

References

Top Articles
Latest Posts
Recommended Articles
Article information

Author: Pres. Lawanda Wiegand

Last Updated:

Views: 5967

Rating: 4 / 5 (71 voted)

Reviews: 94% of readers found this page helpful

Author information

Name: Pres. Lawanda Wiegand

Birthday: 1993-01-10

Address: Suite 391 6963 Ullrich Shore, Bellefort, WI 01350-7893

Phone: +6806610432415

Job: Dynamic Manufacturing Assistant

Hobby: amateur radio, Taekwondo, Wood carving, Parkour, Skateboarding, Running, Rafting

Introduction: My name is Pres. Lawanda Wiegand, I am a inquisitive, helpful, glamorous, cheerful, open, clever, innocent person who loves writing and wants to share my knowledge and understanding with you.