article = {IJSCR-2020-3-103}
title = {Esophageal Perforation in a Patient with Smith-Lemli-Opitz Syndrome}
journal = {International Journal of Surgical Case Reports}
year = {2020}
issn = {2674-4171}
doi = {http://dx.doi.org/10.31487/j.IJSCR.2020.03.03}
url = {https://www.sciencerepository.org/esophageal-perforation-in-a-patient-with-smith-lemli-opitz-syndrome_IJSCR-2020-3-103 
author = {Irim Salik,Jasmeet  Easwar,}
keywords = {Smith-Lemli-Opitz syndrome, cholesterol metabolism, 7-dehyrocholesterol reductase, perioperative considerations, esophagus, perforation, medical management, endoscopy}
abstract ={Smith-Lemli-Opitz syndrome (SLOS) is a rare syndrome caused by an inborn error of cholesterol
metabolism secondary to a deficiency in the 7-dehydrocholesterol (7-DHC) reductase enzyme leading to
hypocholesterolemia. A broad spectrum of clinical manifestations can have significant surgical and
anaesthetic implications. Patients exhibit growth retardation, microcephaly, congenital heart disease and
moderate to severe intellectual disability. Distinctive facial features including micrognathia, cleft palate and
prominent incisors can lead to difficult airway management [1]. We present the case of a 16-year-old female
with SLOS who developed an esophageal perforation following esophageal foreign body retrieval.
Anaesthetic and surgical considerations in a patient with SLOS are discussed.}