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Osteogenesis Imperfecta (OI) is a genetic disorder in which bones break easily and often for no obvious reason. It is also called Lobstein syndrome or brittle bone disease. OI can range from mild to severe, and it can happen to people of all races and both sexes.

OI is caused by changes in one of the genes that make type 1 collagen. Type 1 collagen is a protein that gives bones, skin, and other connective tissues strength and support. How bad OI is depends on which mutation in the gene is present and how it affects collagen production.


Bone breaks happen often in people with OI, often from small injuries or for no clear reason. Short height, a triangular face, a blue or gray tint to the whites of the eyes, hearing loss, and a curved spine may also be signs (scoliosis).

Causes Of  Osteogenesis Imperfecta (Mnemonics) :

  • Genetic mutations affecting collagen synthesis
  • Autosomal dominant inheritance
  • Autosomal recessive inheritance
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Risk Factors Of  Osteogenesis Imperfecta (Mnemonics) :

  • Family history of Osteogenesis Imperfecta
  • Advanced parental age at the time of conception
  • Consanguinity (related parents)
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Mind Map / Concept Map /Memory Aid/ Mnemonic To Remember The Risk Factors Of Osteogenesis Imperfecta

Clinical Features Of  Osteogenesis Imperfecta (Mnemonics) :

  • Fragile bones
  • Bowing of the limbs
  • Blue sclerae
  • Breathing difficulties
  • Short stature
  • Scoliosis
  • Dental problems
  • Hearing loss

 

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Mind Map / Concept Map /Memory Aid/ Mnemonic To Remember The Clinical Features Of Osteogenesis Imperfecta

Signs & Symptoms Of  Osteogenesis Imperfecta (Mnemonics) :

  • Discoloration of teeth
  • Joint laxity
  • Weakness
  • Muscle weakness
  • Bone deformities
  • Fractures with minimal trauma
  • Fatigue
  • Bone pain
  •  

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Mind Map / Concept Map /Memory Aid/ Mnemonic To Remember The Signs & Symptoms Of Osteogenesis Imperfecta

Differential Diagnosis Of Osteogenesis Imperfecta (Mnemonics) :

  • Marfan Syndrome
  • Camurati-Engelmann disease
  • Cleidocranial dysplasia
  • Hypophosphatasia
  • Ehlers-Danlos Syndrome
  • Achondroplasia
  • Pyknodysostosis
  • Osteopetrosis
  • Metaphyseal chondrodysplasia, Schmid type
  • Chondroectodermal dysplasia
  •  

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Mind Map / Concept Map /Memory Aid/ Mnemonic To Remember The Differential Diagnosis Of Osteogenesis Imperfecta

Dr. Arin Nandi

Passionate About Medical Science & Helping Future Doctors Achieve Top Ranks In Medical Exams. He is professionally a dentist as well as a public health expert from JIPMER (1), (2)working in health department
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