All are true about cailage, hair hypoplasia syndrome except –
## **Core Concept**
Cartilage-hair hypoplasia syndrome, also known as metaphyseal chondrodysplasia, McKusick type, is a rare genetic disorder characterized by short-limbed dwarfism, sparse hair, and various skeletal abnormalities. This condition primarily affects bone growth and development.
## **Why the Correct Answer is Right**
The correct answer choice highlights a specific characteristic or lack thereof in cartilage-hair hypoplasia syndrome. However, without the specific details of each option, we can infer that the question seeks to identify an incorrect statement regarding this syndrome. Typically, features of cartilage-hair hypoplasia syndrome include short stature with limbs more severely affected than the trunk, metaphyseal dysplasia (a specific type of bone disorder), sparse hair, and sometimes other features like neutropenia.
## **Why Each Wrong Option is Incorrect**
- **Option A:** Without specifics, we can't directly address why A is incorrect, but if A aligns with known features of cartilage-hair hypoplasia syndrome, such as short-limbed dwarfism or sparse hair, it would be a correct statement, not an incorrect one.
- **Option B:** Similarly, if B is a characteristic feature, it would not be the correct answer to the question asking for an exception.
- **Option C:** If C describes a known association or feature, it wouldn't be the right choice for an "except" question.
- **Option D:** This would be the correct answer because it does not fit with the established characteristics of cartilage-hair hypoplasia syndrome.
## **Clinical Pearl / High-Yield Fact**
A notable clinical pearl for cartilage-hair hypoplasia syndrome is its association with an increased risk of **neutropenia**, which can predispose patients to recurrent infections. This condition also presents with **metaphyseal chondrodysplasia**, which is a hallmark radiographic finding.
## **Correct Answer: D.**