Patient with elfin facies and friendly behaviour; increased curiosity, Supravalvular aortic stenosis, mental depression etc. The diagnosis is
**Core Concept**
Williams syndrome is a rare genetic disorder characterized by a constellation of physical and behavioral features, including distinctive facial features, intellectual disability, and a unique personality profile. It is associated with a specific genetic deletion on chromosome 7.
**Why the Correct Answer is Right**
The patient's presentation of elfin facies, friendly behavior, increased curiosity, and mental depression is classic for Williams syndrome. The supravalvular aortic stenosis is a common cardiovascular feature of this disorder. The genetic deletion in Williams syndrome involves the elastin gene, which is crucial for the normal development of the aorta and pulmonary artery, leading to the characteristic supravalvular aortic stenosis.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is not specified, so we cannot evaluate it.
**Option B:** This option is not specified, so we cannot evaluate it.
**Option C:** This option is not specified, so we cannot evaluate it.
**Option D:** This option is not specified, so we cannot evaluate it.
**Clinical Pearl / High-Yield Fact**
Williams syndrome is often associated with a "cocktail party" personality, where individuals are overly friendly and outgoing. This is due to the characteristic personality traits of people with Williams syndrome, which include a high level of sociability and a desire for social interaction.
**Correct Answer:** D.