... 2001;27:369-370. 33. Dastot-Le Moal F, Wilson M, Mowat D, Collot N, Niel F, Goossens M: ZFHX1B mutations in patients with Mowat-Wilson syndrome. Hum Mutat 2007;28:313-321. 34. Smith DW, Lemli L, Opitz JM: A newly recognized syndrome of multiple congenital anomalies. J Pediatr 1964;64:210-217...

... if there is also a history of seizures or Hirschsprung's disease. The Smith-Lemli-Opitz Syndrome The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by intellectual disability and multiple congenital anomalies. The association of microcephaly, intellectual disability...

... of dietary docosahexaenoic acid on brain composition and neural function in term infants. Lipids 1996;31:(suppl)S177-S181 11. Chan YM, Merkens LS, Connor WE, et al: Effects of dietary cholesterol and simvastatin on cholesterol synthesis in Smith-Lemli-Opitz syndrome. Pediatr Res 2009;65:681-685 12...

... ]. There are no data relating to the brains of breast milk-fed infants compared to the brains of formula-fed infants in the way that was used to establish a need for DHA in infants [ 9 , 10 ]. It is important to note that human infants thrive on cholesterol-free diets. Smith-Lemli-Opitz syndrome, marked...

..., Dattani MT, Rahman S: Mitochondrial disease and endocrine dysfunction. Nat Rev Endocrinol 2017;13:92-104. 38. Donoghue SE, Pitt JJ, Boneh A, White SM: Smith-Lemli-Opitz syndrome: clinical and biochemical correlates. J Pediatr Endocrinol Metab 2018;31:451. ...

... in some patients with a metabolic syndrome, namely Smith-Lemli-Opitz syndrome (SLOS; OMIM phenotype #270400), an autosomal recessive disorder caused by mutations in the DHCR7 gene (OMIM gene *602858) resulting in reduced cholesterol biosynthesis with typical congenital malformations [ 38 ]. Diagnostic...

... of the literature. Eur J Med Genet 2006;49:384-395 43. Fryns JP, De Backer D, Lemli L, Pedersen JC, Van den Berghe H: Partial duplication of the long arm of chromosome 22 (22q13) with complete 22 trisomy phenotype. Acta Paediatr Belg 1980;33:125-127 44. Okamoto N, Kubota T, Nakamura Y, Murakami R, Nishikubo...

.... X-linked adrenoleukodystrophy, adrenal hypolasia congenita, triple A syndrome, familiar glucocorticoid deficiency, Smith-Lemli-Opitz syndrome and Kearns-Sayre syndrome), haemorrhagic, metastatic and infiltrative disorders and drugs, but these are all rare in adult patients. It is important to note...

... infections in children with extremely low cholesterol that are found in the Smith-Lemli-Opitz syndrome are alleviated by the addition of cholesterol to their diet [ 165 ]. Even in FH, a high cholesterol seems to protect against infections. Thus, before the year 1900, when infectious diseases were...

..., Holler E, Walli AK, Seidel D: Serum cholesterol levels in neutropenic patients with fever. Clin Chem Lab Med 2002;40:304-307 165. Elias ER, Irons MB, Hurley AD, Tint GS, Salen G: Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS). Am J Med Genet...

... (CYP51), both of which require POR for electron transfer [ 54 , 55 ]. Second, human disorders of cholesterol biosynthesis such as the Smith- Lemli- Opitz syndrome, which is caused by mutations in the gene for 7- dehydrocholesterol reductase, can cause skeletal anomalies. Third, cholesterol is required...

... of biological plausibility: DHCR7 is the gene involved in Smith-Lemli-Opitz syndrome encodes the enzyme 7-dehydrocholesterol (7-DHC) reductase, which converts 7-DHC to cholesterol and removes the substrate from the biosynthesis pathway of vitamin D 3 . CYP2R1 encodes a hepatic microsomal enzyme that underlies...

...: Maternal serum unconjugated estriol as a predictor for Smith-Lemli-Opitz syndrome and other fetal conditions. Obstet Gynecol 2003;102:167-172 145. Lykkesfeldt G, Hoyer H, Lykkesfeldt AE, Skakkebaek NE: Steroid sulphatase deficiency associated with testis cancer. Lancet 1983;ii:1456 146. Koppe G...

... BC, Mieloo H, Smeets DF, Van Ravenswaaij CM: Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature. Eur J Med Genet 2006;49:384-395 43. Fryns JP, De Backer D, Lemli L, Pedersen JC, Van den Berghe H: Partial duplication...

... ]. Given the close approximation of the sites of metabolic blockade and the striking phenotypic similarities, the presence of some phenotypic overlap is not surprising (reviewed in Kelley and Herman [ 126 ]). While a scaling phenotype does not occur in Smith-Lemli-Opitz syndrome (OMIM No. 270400...