Ontogenesis imperfecta

•Download as PPT, PDF•

0 likes•872 views

asteinman

Info on OI ,[object Object],[object Object],[object Object],[object Object]

More info on OI ,[object Object],[object Object],[object Object]

Symptoms ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Chromosome that carries OI The genes have switched parts by crossing over

Bibliography ,[object Object],[object Object],[object Object],[object Object],[object Object]

Similar to Ontogenesis imperfecta

Osteogenesis imperfecta

rabab9

Oi illness

aliciadiez

Pain leaflet brittle bone disease

Genetics project

Hemophila pp

Autism

O.I. RESEARCH POSTER

Everything you Need to Know About Progeria

Alexis Goll

genetics proj

kamolt

A one-year old child is discovered to have numerous bone fractures. Social workers suspect child abuse. What condition might lead to a false conclusion about this child? Explain what causes this developmental disorder. How common is it? Solution Several fractures in various stages of healing of a child is not always a case of child abuse but it may be a genetic disorder called osteogenesis imperfecta. The disease follows autosomal dominant pattern of inheritance generally, But in some cases it may follow autosomal recessive pattern of inheritance. There are eight recognized forms of osteogenesis imperfecta. Causes-- Mutations in the COL1A1 and COL1A2 genes causes the disease in 90% of cases. CRTAP and P3H1 genes also cause osteogenesis imperfecta. These genes are responsible for Type I collagen assembly. Type I collagen I required in formation and strengthening of connective tissues, particularly bones. Due to the mutation collagen triple helix is denatured. As a result the bones become fragile. Type I OI, which is a milder form, are characterized by bone fractures during childhood and adolescence and this type occurs due to mutation in the COL1A1 gene. More severe forms of osteogenesis imperfecta (type II and type III) have no family history and caused by sporadic mutations in the COL1A1 or COL1A2 gene. More researches are still in progress to know more details (others genes that are involved, alternative cause, treatment of the disease) about the disease. Frequency—According to NIH report the disease is found in 6 to 7 per 100,000 people worldwide. Types I and IV are the most common forms of osteogenesis imperfecta, affecting 4 to 5 per 100,000 people..

$A one-year old child is discovered to have numerous bone fractures. S.pdf$ $A one-year old child is discovered to have numerous bone fractures. S.pdf$

A one-year old child is discovered to have numerous bone fractures. S.pdf

Psyc 340 ppp

Birth Defects

Progeria

Genetic disorder

Genetic disorder

Slideshow

Slideshow Copy

Slideshow

Bio 1 osteoporosis

Roll no oooooo2

Similar to Ontogenesis imperfecta (20)

Osteogenesis imperfecta

Oi illness

Pain leaflet brittle bone disease

Genetics project

Hemophila pp

Autism

O.I. RESEARCH POSTER

Everything you Need to Know About Progeria

genetics proj

$A one-year old child is discovered to have numerous bone fractures. S.pdf$ $A one-year old child is discovered to have numerous bone fractures. S.pdf$

A one-year old child is discovered to have numerous bone fractures. S.pdf

Psyc 340 ppp

Birth Defects

Progeria

Genetic disorder

Slideshow

Slideshow Copy

Slideshow

Bio 1 osteoporosis

Roll no oooooo2

Ontogenesis imperfecta

Recommended

Recommended

More Related Content

Similar to Ontogenesis imperfecta

Similar to Ontogenesis imperfecta (20)

More from asteinman

More from asteinman (20)

Ontogenesis imperfecta