Patient with elfin facies and friendly behaviour; increased curiosity, Supravalvular aortic stenosis, mental depression etc. The diagnosis is
Correct Answer: Williams syndrome
Description: (A) Williams syndrome # WILLIAMS SYNDROME (also named Williams-Beuren Syndrome) is a genetic condition that is present at birth and can affect anyone. It is caused by the omission of about 26 genes from the long arm of chromosome 7, and can lead to problems with development. Williams Syndrome occurs in about 1 in 8,000 births and there is no cure. Williams Syndrome mainly affects the gene that produces elastin, a protein that allows blood vessels and other tissues in the body to stretch.> Some symptoms of Williams Syndrome are: Delayed speech; Developmental delay; Easily distracted; attention deficit disorder (ADD) Learning disorders, Mild to moderate mental retardation> Personality traits including being very friendly, trusting strangers, fearing loud sounds or physical contact, and being interested in music Short compared to the rest of the person's family; Sunken chest (pectus excavatum); Unusual appearance of the face; Flattened nasal bridge with small upturned nose; Partially missing teeth> Some signs that show the appearance of Williams Syndrome are: Blood vessel narrowing; Farsightedness High blood calcium level (hypercalcemia) that may cause seizures and rigid muscles; High blood pressure> Some complications that may occur with Williams Syndrome are: Calcium deposits in the kidney and other kidney problems; Death (in rare cases from anesthesia); Heart failure due to narrowed blood vessels; Pain in the abdomen.> Many of the symptoms and signs of Williams Syndrome may not be obvious at birth. People who have a family history of Williams Syndrome should seek genetic counseling and prenatal testing before conceiving.
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