Clinical Case: 3 Tissues/Skeletal Tissues A young girl aged 19, comes for a cons

Question

Clinical Case: 3 Tissues/Skeletal Tissues A young girl aged 19, comes for a consultation with her mother wit 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 fell quickly),triangular face, the cornea was transparent blue (blue sclera) and also her mother had blue sclera. Questions: 1. What do you think is her diagnosis? 2. The molecular genetic test was used for clinic diagnosis confirmation and releaved mutations in COL1 A1 and COL1 A2. What the above mentioned genes are responsible for, and what do 3. What is the inheritance pattern of this genetic disease? The 4. What other characteristic signs for this disease are present in our 5. How many types of this disease are known and the differences 6. With what this form might easily get mistaken? they confirm? prevalence? patient? among them? What is our patient's type?

Explanation / Answer

The patient is suffering from osteogenesis imperfecta. COL A1 and COL A2 genes are involved in the formation of type 1 collagen. Mutations in these genes confirm the presence of connective tissue disorder. Osteogenesis imperfecta is inherited in autosomal dominant pattern. The prevalence of the disease is about 1 in 15000 population. In United States, the number of people affected by this disease may range from 25000 to 50000. The characteristic sign of osteogenesis imperfecta that is present in the patient includes brittle, fragile and thin bones, weak tendons and joints, defective dentition, transparent cornea and blue sclera. There are eight types of osteogenesis imperfecta. These different types differ in their age of onset, mutations in genes, severity of disease, affected organs and mode of inheritance. The given patient is suffering from type III osteogenesis imperfecta. This type III osteogenesis imperfecta is often mistaken with type I osteogenesis imperfecta.

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