Case report of a Rare Cause of Portal Hypertension

Williams or Williams-Beuren (WBS) is a developmental disorder with multisystemic manifestations. Chromosome 7 microdeletion underlying WBS occurs because of the unique genetic architecture in this region. Facial features change from subtle to dramatic. The extent of mental and development problems is variable. Cardiovascular, endocrine, and nervous system involvement mostly affect the morbidity and mortality. Although many systems are involved in this syndrome, portal hypertension and splenomegaly are scarcely reported. We report a case of William syndrome with moderate splenomegaly and portal hypertension.