Diaphyseal Aclasis Hallmarks Explained
Diaphyseal aclasis, also known as Multiple Hereditary Exostoses (HME), is a genetic disorder affecting bone development. The question requires identifying the feature listed that is *not* a typical characteristic (hallmark) of this condition.
Analyzing Diaphyseal Aclasis Characteristics
We will evaluate each provided option:
- Option 4: It is inherited as an autosomal dominant dysplasia
This statement accurately describes the inheritance pattern of Diaphyseal aclasis. It is a well-established hallmark. - Option 2: Genu valgum can be found
Bone deformities, including genu valgum (commonly known as knock knees), frequently occur in patients with Diaphyseal aclasis due to the underlying skeletal abnormalities. This is a known hallmark. - Option 3: Chondrosarcoma may occur in less than 1% cases
Malignant transformation into chondrosarcoma is a rare but recognized potential complication of Diaphyseal aclasis. The low percentage confirms its status as a possible, though infrequent, characteristic. - Option 1: Pseudoarthrosis is common
Pseudoarthrosis, the development of a false joint, is not considered a common or primary hallmark feature of Diaphyseal aclasis. While it might occur in some cases, it is not as characteristic as the other features mentioned and is more strongly associated with other genetic conditions.
Identifying the Exception
Comparing the options, the most accurate exception to the common hallmarks of Diaphyseal aclasis is the claim that pseudoarthrosis is common.
Therefore, "Pseudoarthrosis is common" is the feature that does not typically characterize Diaphyseal aclasis.
Important Questions from Bones & Joints
- A 40-year-old lady complains of progressive deformities of her hands and fingers associated with stiffness which is present in both the hands and improves as the day progresses. On examination, there is symmetrical involvement of hands and fingers of both the upper limbs with flexion and ulnar deviation at the metacarpophalangeal joints. What is the most likely diagnosis in this lady?
- A 52-year-old female complains of increasing pain in the right shoulder. She is also finding it increasingly difficult to do overhead abduction of the affected joint. She had been diagnosed as a diabetic 20 years back and is on treatment since then. What is the most likely cause of her clinical condition?
Consider the following :
1. Pain relief
2. Prevention of infection
3. Anaesthesia
4. Restoration of anatomy
Which of the features given above are benefits of fracture treatment?
- Hangman's fracture is
- Which of the following is NOT true about Dupuytren's Contracture?
