title: An MCA/MR syndrome with hypocholesterolemia due to familial hypobetalipoproteinemia: report of a second patient with Nguyen syndrome.
abstract: [Nguyen et al. (2003); Am J Med Genet 121A: 109-112] reported a boy with severe hypocholesterolemia due to autosomal dominant hypobetalipoproteinemia (ADBHL) associated with severe growth retardation, mental deficiency, epicanthal folds, a short nose with low nasal bridge and anteverted nares and bilateral partial cutaneous syndactyly of toes 2 and 3. Many of these manifestations resembled those in a mild form of Smith-Lemli-Opitz syndrome (SLOS). We report on a 13-year-old boy with ADHBL, who manifested a SLOS-like phenotype, including mental retardation and a characteristic face, similar to that of a patient reported by [Nguyen et al. (2003); Am J Med Genet 121A: 109-112]. Our patient supports the hypothesis by [Nguyen et al. (2003); Am J Med Genet 121A: 109-112] that ADHBL induced cholesterol deficiency has a significant effect on morphogenesis during embryogenesis, although additional genetic or environmental factors may be required to develop an SLOS-like phenotype in individuals with ADHLB. This is a second case of Nguyen syndrome.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Tamaho-cho, Japan. tnakane@res.yamanashi-med.ac.jp
authors.forename: Takaya
authors.initials: T
authors.lastname: Nakane
authors.forename: Hidemasa
authors.initials: H
authors.lastname: Hayashibe
authors.forename: Shinpei
authors.initials: S
authors.lastname: Nakazawa
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000293:Adolescent; D019465:Craniofacial Abnormalities / Q000473:pathology; D005192:Family Health; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000473:pathology*; D008607:Intellectual Disability / Q000473:pathology*; D008297:Male; D019082:Smith-Lemli-Opitz Syndrome / Q000473:pathology; D013577:Syndrome