Williams Syndrome With Rare Ureteric Abnormality

Williams Syndrome and Right Ventricular Noncompaction: A Rare Association

Ventricular noncompaction and Williams syndrome are genetic disorders with typical clinical and echocardiographic cardiovascular manifestations. Here, we describe a young patient with rare association of clinical phenotype suggestive of Williams syndrome and right ventricular noncompaction.

Williams Syndrome with a “Twist”

Williams syndrome is a rare genetic condition with multisystemic involvement, caused by a microscopic deletion in the chromosome band 7q11.23. We describe the first case of a toddler with Williams syndrome who developed Benign Paroxysmal Torticollis (BPT), a benign dystonic disorder of unknown aetiology.

A Rare Stapes Abnormality

The aim of this study is to increase awareness of rare presentations, diagnostic difficulties alongside management of conductive hearing loss and ossicular abnormalities. We report the case of a 13-year-old female reporting progressive left-sided hearing loss and high resolution computed tomography was initially reported as normal. Exploratory tympanotomy revealed an absent stapedius tendon and...

Williams syndrome.

Williams syndrome

Williams syndrome...people with intact language, intact face processing and very low IQ, right? Wrong! That’s the propagated myth because, if it were true, it would be such an elegant example of innate modularity at the genetic, brain and cognitive levels. But numerous labs across the world have shown that although vocabulary levels can be surprisingly high in Williams syndrome children, they a...