{Reference Type}: Case Reports
{Title}: Lethal fat embolism complicating Sotos syndrome.
{Author}: Gilbert JD;Byard RW;
{Journal}: Med Sci Law
{Volume}: 58
{Issue}: 2
{Year}: Apr 2018
{Factor}: 2.051
{DOI}: 10.1177/0025802418758210
{Abstract}: Sotos syndrome is a rare congenital syndrome caused by deletions or mutations in the NSD1 gene (chromosome 5q35) which results in overgrowth. A wide range of manifestations may result in unexpected and/or early death, including congenital cardiac malformations and tumours, epilepsy, intra-tumoural haemorrhage or embolism and bleeding diatheses. A case of lethal pulmonary fat embolism complicating revision of a left total hip replacement following spontaneous fracture is reported in a 39-year-old man with Sotos syndrome. This case demonstrates that orthopaedic problems later in life may be added to potential causes of premature death in this syndrome.