Osteogenesis imperfecta with Rickets
Osteogenesis imperfecta-
Inheritable disorder of connective tissue
Defective synthesis of collagen type I
Five important points of Osteogenesis imperfecta
1Generalized osteopenia with multiple fractures of bones.
2.Blue sclera (> 90% cases)
3.Abnormal dentition ( dentinogenesis imperfecta)
4.Otosclerosis
5.Family history of similar disease
Classification:- There are many. Commonly used which was offered by Sillence (1979)
Type Bone fragility Blue sclera Abnormal dentition Hearing loss Inheritance
I Mild Present IA - Absent Present AD
IB- present
II Severe Present Present Unknown Sporadic
III Moderate At birth Present Present AR/AD
IV Moderate Absent IA- Absent Present AD
Clinical presentataion;
Severe type - intrauterine death or neonatal death
Moderate type - Multiple fractures of bones. Blue sclera , Abnormal dentition ,And other features
Mild -- Less severe fetaures
*Causes of Generalized osteopenia ( 6 M)
1.Maturity .. Osteoporosis
i.Senile
ii. Postmenopausal2
2.Metabolic/Endocrine/ Nutritional
i.Rickets
ii.Scurvy
iii.hyperparthyroidism
iv.Hyperthyroidism /Hypothyroidism
v.Cushing syndrome/Addison\'s disease
vi.Hypopituitarism
Vii.DM
Viii. Hypogonadism
3.Marrow hyperplasia
i.Myeloma /Leukaemia/Lymphoma
ii.Metastasis
iii.Gaucher disease
iv.Anaemia (Sickle,Thalssaemia)
4. Medication
i.heparin
ii.Steroids
iii.Antiepileptic
iv.Immunosuppresant
V.Alcohol ( ? medication)
5. MPS and
Osteogenesis imperfecta/
EDS
6. Miscellaneous group
i.Chronic renal diseases
ii.Chronic liver diseases
iii.GI malabsorption
iv.Immobilazation
Don\'t forget - Fragile Bone , Blue Eye ( sclera ... Not iris),Dirty teeth, deaf person is osteogenesis imperfecta