Can someone please help me answer the following question? Please do not attempt
ID: 3476061 • Letter: C
Question
Can someone please help me answer the following question? Please do not attempt to answer this question if you cannot answer all parts. Thank you
Clinical Case: 3 Tissues/Skeletal Tissues A young girl aged 19, comes for a consultation with her mother with 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 they confirm? 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? prevalence? patient? among them? What is our patient's type?Explanation / Answer
1. The diagnosis is OSTEOGENESIS IMPERFECTA otherwise known as BRITTLE bone disease which is characterized by increased fragility of bones. This is a genetic disease with AUTOSOMAL DOMINANT pattern of inheritance which means that one of the parents at least must be suffering from the same disorder.
2. COL 1 and COL 2 are responsible for connective tissue formation such as TYPE 1 COLLAGEN. Almost 90% mutations occur due to defect in these genes.
3. The disease is AUTOSOMAL DOMINANT ( AD) and it's prevalence is approximately 1/ 15000 live births.
4. Abnormally fragile bones, joints and tendons, poor dentition, blue sclera, maternal history.
5. There are at least 9 types that is I to IX. This patient haS TYPE III disease.
6. It may easily be mistaken for TYPE IV