Podcast
Questions and Answers
What is the most common form of Osteogenesis Imperfecta's inheritance pattern?
What is the most common form of Osteogenesis Imperfecta's inheritance pattern?
- Autosomal recessive
- Autosomal dominant (correct)
- X-linked recessive
- X-linked dominant
Ehlers-Danlos Syndrome only occurs in individuals with an autosomal dominant inheritance pattern.
Ehlers-Danlos Syndrome only occurs in individuals with an autosomal dominant inheritance pattern.
False (B)
What is the primary treatment for Osteogenesis Imperfecta?
What is the primary treatment for Osteogenesis Imperfecta?
Bisphosphonates
Menkes Disease leads to brittle, ______ hair due to defective copper transport.
Menkes Disease leads to brittle, ______ hair due to defective copper transport.
Which protein is defective in Menkes Disease?
Which protein is defective in Menkes Disease?
Blue sclerae are a manifestation of Menkes Disease.
Blue sclerae are a manifestation of Menkes Disease.
List one common symptom of Ehlers-Danlos Syndrome.
List one common symptom of Ehlers-Danlos Syndrome.
Individuals with Osteogenesis Imperfecta can exhibit ______ abnormalities due to lack of dentin.
Individuals with Osteogenesis Imperfecta can exhibit ______ abnormalities due to lack of dentin.
Match the following conditions with their key manifestations:
Match the following conditions with their key manifestations:
What major health risks are associated with Menkes Disease?
What major health risks are associated with Menkes Disease?
Flashcards
Osteogenesis Imperfecta
Osteogenesis Imperfecta
A genetic condition characterized by fragile bones, often referred to as 'brittle bone disease.' It results from defects in collagen synthesis, primarily affecting the genes COL1A1 and COL1A2.
Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome
A group of genetic disorders affecting collagen production, leading to hyperextensible skin, hypermobile joints, and increased susceptibility to bruising and bleeding.
Menkes Disease
Menkes Disease
An X-linked recessive disorder caused by a deficiency in copper absorption and transport, resulting in defective collagen cross-linking.
What is the inheritance pattern of the most common form of Osteogenesis Imperfecta?
What is the inheritance pattern of the most common form of Osteogenesis Imperfecta?
Signup and view all the flashcards
What is the structural issue with collagen in the most common form of Osteogenesis Imperfecta?
What is the structural issue with collagen in the most common form of Osteogenesis Imperfecta?
Signup and view all the flashcards
What is the distinctive eye symptom seen in Osteogenesis Imperfecta?
What is the distinctive eye symptom seen in Osteogenesis Imperfecta?
Signup and view all the flashcards
What is the tooth abnormality associated with Osteogenesis Imperfecta?
What is the tooth abnormality associated with Osteogenesis Imperfecta?
Signup and view all the flashcards
What is the most common type of Ehlers-Danlos Syndrome?
What is the most common type of Ehlers-Danlos Syndrome?
Signup and view all the flashcards
What enzyme is affected in Menkes Disease?
What enzyme is affected in Menkes Disease?
Signup and view all the flashcards
What is the common treatment for Osteogenesis Imperfecta?
What is the common treatment for Osteogenesis Imperfecta?
Signup and view all the flashcards
Study Notes
Osteogenesis Imperfecta
- Genetic bone disorder caused by various gene defects, most commonly COL1A1 and COL1A2
- Most common form is autosomal dominant
- Characterized by altered triple helix formation of type I collagen
- Manifestations include multiple fractures and bone deformities (easily fractured after minimal trauma, often visible during birth)
- Blue sclerae due to translucent scleral collagen, revealing choroidal veins
- Some forms have tooth abnormalities, including opalescent teeth that wear easily due to lack of dentin (dentinogenesis imperfecta)
- Hearing loss due to abnormal ossicles
Ehlers-Danlos Syndrome
- Faulty collagen synthesis results in hyperextensible, thin, and often transparent skin
- Joints are hypermobile, high tendency to bleed (easy bruising)
- Multiple types, inheritance and severity vary
- Can be autosomal dominant or recessive
- May be associated with joint dislocations, berry and aortic aneurysms, organ rupture
- Hypermobility type is the most common type
Menkes Disease
- X-linked recessive connective tissue disorder caused by impaired copper absorption and transport due to defective Menkes protein ATP7A (Absent copper)
- Leads to increased activity of lysyl oxidase (copper is a cofactor)
- This results in defective collagen cross-linking
- Characteristics include brittle, "kinky" hair, growth and developmental delay, hypotonia, and increased risk of cerebral aneurysms
Studying That Suits You
Use AI to generate personalized quizzes and flashcards to suit your learning preferences.
