Radiologic clinics of North America | 1992 | Dee PM
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[Indexed for MEDLINE] 17. Med Sci Law. 2018 Apr;58(2):119-121. doi: 10.1177/0025802418758210. Epub 2018 Mar 12. Lethal fat embolism complicating Sotos syndrome. Gilbert JD(1), Byard RW(1). Author information: (1)Forensic Science SA and Discipline of Anatomy and Pathology, The University of Adelaide, Australia. 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. DOI: 10.1177/0025802418758210
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