alexa Osteogenesis Imperfecta (Oi): A Case Report and Diagnosis Thinking Beyond Bone Fracture | OMICS International
ISSN: 1747-0862

Journal of Molecular and Genetic Medicine
Open Access

OMICS International organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations

700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)

Case Report

Osteogenesis Imperfecta (Oi): A Case Report and Diagnosis Thinking Beyond Bone Fracture

Manuela Stoicescu*

Pharmacy Medical Disciplines Department, University of Oradea, Romania

Corresponding Author:
Manuela Stoicescu
Consultant MD, PhD, Assistant Professor
Faculty of Medicine, Pharmacy Medical Disciplines Department
University of Oradea, Romania
Tel: 0723019951
E-mail: [email protected]

Received Date: December 16, 2013; Accepted Date: February 24, 2014; Published Date: February 26, 2014

Citation: Stoicescu M (2014) Osteogenesis Imperfecta (Oi): A Case Report and Diagnosis Thinking Beyond Bone Fracture. J Mol Genet Med 8:100 doi: 10.4172/1747-0862.1000100

Copyright: © 2014 Stoicescu M. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited

Abstract

Objectives: Most times in the medical practice, when we have a case of bone fracture, the patient is sent to the Orthopedic Department in order to treat locally the bone fracture with bone consolidation, without thinking at other diseases, of which the patient could suffer from and which in fact represent the real cause of the fracture, exception making the women at menopause, which make frequent fractures on background of osteoporosis and the cancers with different localizations complicate with bone metastasis, in these situations the fractures appear on pathologic bone and have a reserved prognosis. We should investigate further for other pathologies in order to find the real cause of the fracture. Methods: Present the case of a young girl aged 19, comes for a consultation with her mother with a complaint of fatigue, loss of appetite, lack of concentration and attention at school, getting tired easily after minimal physical and intellectual effort, the patient also mentions that about eight months ago she sustained a minor trauma to her left forearm which resulted in a fracture, which was then followed by a fracture of the radius and resulted in her being referred to the orthopedics department where her arm had to be fitted with metal rods. The principal signs was: bone deformation, bone shortening, thin bones, abnormally fragile bones, small muscles, joints and weak tendons, formation of thick scars, small somatic conformation, defective dentition (incomplete dentition , the teeth was damaged, the teeth falled quickly),the cornea was transparent blue(blue sclera) and also her mother had blue sclera. The molecular genetic test was used for clinic diagnosis confirmation and releaved mutations in COL1 A1 and COL1 A2 genes responsabile of sintesis of type I procollagen and confirmed the disease osteogenesis imperfecta. Results: The case of the fracture of the forearm was a very rare genetic disease - osteogenesis imperfecta- a congenital autosomal dominance. A.D. illness and occur even if only one parent transmits the effected gene. As in this case the daughter inherited the disease from her mother. Conclusions: Initially the case appeared to be a trivial case with a simple forearm bone fracture./Subsequently detailed physical examination revealed clinical signs such as somatic changes dentition and more importantly blue sclera pointing us towards the extremely rare disease osteogenesis imperfecta / An examination of the patient’s mother revealed the same signs, confirming the patient had inherited the autosomal dominant disease from her mother./Starting from a simple fracture and some nonspecific clinical symptoms, the final diagnosis was an unexpected surprise to finally discover a hereditary disease with autosomal dominant transmission which is extremely rare - osteogenesis imperfecta. This clinical case should point out that sometimes when a simple fracture is discovered there may be previously unknown underlying disease which may have contributed to the injury and fractures can also be caused by other bone disease./ The molecular genetic test was used for clinic diagnosis confirmation and releaved mutations in COL1 A1 and COL1 A2 genes responsabile of sintesis of type I procollagen and confirmed the disease osteogenesis imperfecta.

Peer Reviewed Journals
 
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
 
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

Agri & Aquaculture Journals

Dr. Krish

[email protected]

1-702-714-7001Extn: 9040

Biochemistry Journals

Datta A

[email protected]

1-702-714-7001Extn: 9037

Business & Management Journals

Ronald

[email protected]

1-702-714-7001Extn: 9042

Chemistry Journals

Gabriel Shaw

[email protected]

1-702-714-7001Extn: 9040

Clinical Journals

Datta A

[email protected]

1-702-714-7001Extn: 9037

Engineering Journals

James Franklin

[email protected]

1-702-714-7001Extn: 9042

Food & Nutrition Journals

Katie Wilson

[email protected]

1-702-714-7001Extn: 9042

General Science

Andrea Jason

[email protected]

1-702-714-7001Extn: 9043

Genetics & Molecular Biology Journals

Anna Melissa

[email protected]

1-702-714-7001Extn: 9006

Immunology & Microbiology Journals

David Gorantl

[email protected]

1-702-714-7001Extn: 9014

Materials Science Journals

Rachle Green

[email protected]

1-702-714-7001Extn: 9039

Nursing & Health Care Journals

Stephanie Skinner

[email protected]

1-702-714-7001Extn: 9039

Medical Journals

Nimmi Anna

[email protected]

1-702-714-7001Extn: 9038

Neuroscience & Psychology Journals

Nathan T

[email protected]

1-702-714-7001Extn: 9041

Pharmaceutical Sciences Journals

Ann Jose

[email protected]

1-702-714-7001Extn: 9007

Social & Political Science Journals

Steve Harry

[email protected]

1-702-714-7001Extn: 9042

 
© 2008- 2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version