TY - CHAP M1 - Book, Section TI - Smith-Lemli-Opitz Syndrome A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - An autosomal recessive polymalformative syndrome due to the inability to make cholesterol. Affects the central nervous system (CNS) (white matter) and characterized by growth retardation, developmental delay, severe dysphagia, microcephaly, micrognathia, cleft palate, cataracts, ptosis, polysyndactyly and syndactyly of the second and third toes, and congenital heart defects (transposition of the great vessels is frequent). Congestive heart failure and liver failure are not uncommon. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164085416 ER -