Smith-Lemli-Opitz syndrome: Phenotypic extreme with minimal clinical findings

American Journal of Medical Genetics

Volumn 78, Issue 5, 1998, Pages 419-423

  Nowaczyk, Malgorzata J M ^a,b   Whelan, Donald T ^a   Hill, Robert E ^a  

^a MCMASTER UNIVERSITY   (Canada)

^b MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

Author keywords

7 dehydrocholesterol; Behavioral problems; Cholesterol synthesis; Mental retardation; Thumb hypoplasia; Toe syndactyly

Indexed keywords

7 DEHYDROCHOLESTEROL REDUCTASE; CHOLESTEROL; OXIDOREDUCTASE; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHILD; FACE MALFORMATION; FEMALE; HETEROZYGOTE; HUMAN; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; PHENOTYPE; PRIORITY JOURNAL; RELATIVE; SMITH LEMLI OPITZ SYNDROME;

CHOLESTEROL; DEHYDROCHOLESTEROLS; FEMALE; GENES, RECESSIVE; GROWTH DISORDERS; HETEROZYGOTE; HUMANS; INFANT; MALE; MENTAL DISORDERS; MENTAL RETARDATION; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PHENOTYPE; SMITH-LEMLI-OPITZ SYNDROME; SYNDACTYLY;

EID: 0031830407     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980806)78:5<419::AID-AJMG5>3.0.CO;2-G     Document Type: Article

References (15)

1. Bialer MG, Penchaszadeh VB, Kahn E, Libes R, Krigsman G, Lesser ML (1987): Female external genitalia and Müllerian duct derivatives in a 46,XY infant with the Smith-Lemli-Opitz syndrome. Am J Med Genet 28:723-731.
2. Castilla EE, Paz JE, Orioli-Parreiras IM (1980): Syndactyly: Frequency of specific types. Am J Med Genet 5:357-364.
3. Curry CJR, Carey JC, Holland JS (1987): Smith-Lemli-Opitz syndrome type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. Am J Med Genet 26:45-57.
4. Cunniff C, Kratz LE, Moser A, Natowicz MR, Kelley RI (1997): Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. Am J Med Genet 68:263-269.
5. Greens C, Picts W, Rosenfeld R (1984): Smith-Lemli-Opitz syndrome in two 46,XY infants with female external genitalia. Clin Genet 25:366-372.
6. Holmes LB (1994): Prevalence of Smith-Lemli-Opitz syndrome. Am J Med Genet 50:334.
7. Irons MB, Elias ER, Abuelo D, Bull MJ, Greens CL, Johnson VP, Keppen L, Schanen C, Tint S, Salen G (1997): Treatment of Smith-Lemli-Opitz syndrome: Results of a multicenter trial. Am J Med Genet 68:311-314.
8. Kelley RI, Moser A, Natowicz MR (1994): The clinical and biochemical spectrum of 7-dehydrocholesterolemia: Smith-Lemli-Opitz syndrome and its variants. Am J Med Genet 50:335.
9. Lowry RB, Yong S-L (1980): Borderline normal intelligence in the Smith-Lemli-Opitz (RHS) syndrome. Am J Med Genet 5:137-143.
10. Moebius FF, Fitzky BU, Lee JN, Paik YK, Glossmann H (1998): Molecular cloning and expression of the human delta 7-sterol reductase. Proc Natl Acad Sci USA 95:1899-1902.
11. Opitz JM (1994): RSH-SLO ("Smith-Lemli-Opitz") syndrome: Historical, genetic and developmental considerations. Am J Med Genet 50:344-346.
12. Shefer S, Salen G, Batta AK, Honda A, Tint GS, Irons M, Elias ER, Chen TC, Holick MF (1995): Markedly inhibited 7-dehydrocholesterol-delta(7)-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. J Clin Invest 96:1779-1785.
13. Smith DW, Lemli L, Opitz JM (1964): A newly recognized syndrome of multiple congenital anomalies. J Pediatr 64:210-217.
14. Tint GS, Irons M, Elias ER (1994): Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med 330:107-113.
15. Tint GS, Salen G, Batta AK, Shefer S, Irons M, Elias ER, Abuelo DN, Johnson VP, Lambert M, Lutz R, Schanen C, Morris CA, Hoganson G, Hughes-Benzie R (1995): Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. J Pediatr 127:82-87.