title: MCA/MR syndrome with hypocholesterolemia related to familial dominant hypobetalipoproteinemia.
abstract: Recent reports have emphasized the role of cholesterol in vertebrate embryonic development. The RSH or so-called Smith-Lemli-Opitz syndrome (SLOS) was the first multiple congenital anomalies/mental retardation syndrome related to a cholesterol synthesis disturbance. Familial hypobetalipoproteinemia is a well-known dominantly inherited entity in which affected individuals usually are free of symptoms. We report on the unusual association of a malformation syndrome with mental retardation resembling SLOS and profound hypocholesterolemia related to familial hypobetalipoproteinemia. We discuss the possible causal relationship between the two conditions and the current understanding of the role of cholesterol in normal embryogenesis.
authors.affiliation: Département de Génétique Médicale, Hôpital D'enfants de la Timone, Marseille, France. nguyen.karine@ap-hm.fr
authors.forename: Karine
authors.initials: K
authors.lastname: Nguyen
authors.forename: Sabine
authors.initials: S
authors.lastname: Sigaudy
authors.forename: Nicole
authors.initials: N
authors.lastname: Philip
mesh_terms: D002784:Cholesterol / Q000096:biosynthesis / Q000172:deficiency*; D000013:Congenital Abnormalities / Q000196:embryology / Q000235:genetics / Q000378:metabolism; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000473:pathology; D005799:Genes, Dominant; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000235:genetics*; D007223:Infant; D008607:Intellectual Disability / Q000196:embryology / Q000235:genetics / Q000378:metabolism; D008297:Male; D019082:Smith-Lemli-Opitz Syndrome / Q000235:genetics; D013577:Syndrome
chemical_list: D002784:Cholesterol