MCA/MR syndrome with hypocholesterolemia related to familial dominant hypobetalipoproteinemia.
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.
Nguyen
Karine
K
Département de Génétique Médicale, Hôpital D'enfants de la Timone, Marseille, France. nguyen.karine@ap-hm.fr
Sigaudy
Sabine
S
Philip
Nicole
N
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
D002784:Cholesterol