Phenotypic diversity in the Smith-Lemli-Opitz syndrome

Clinical Dysmorphology

Volumn 6, Issue 1, 1997, Pages 69-73

  Seller, Mary J ^a   Flinter, Frances A ^a   Docherty, Zoe ^a   Fagg, Nuala ^a   Newbould, Melanie ^b,c  

^a GUY S HOSPITAL   (United Kingdom)

^b KING S COLLEGE HOSPITAL   (United Kingdom)

^c ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

autosomal recessive inheritance; inborn errors of metabolism; male pseudohermaphroditism; multiple congenital anomalies; Smith Lemli Opitz syndrome; variable expressivity

Indexed keywords

BIOCHEMICAL MARKER;

ARTICLE; CASE REPORT; CHOLESTEROL SYNTHESIS; CLINICAL FEATURE; FEMALE; FETUS; GENE EXPRESSION; HUMAN; INBORN ERROR OF METABOLISM; INFANT; MALE; PHENOTYPE; PRIORITY JOURNAL; PSEUDOHERMAPHRODITISM; SMITH LEMLI OPITZ SYNDROME; SYNDROME DELINEATION;

EID: 0031016924     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-199701000-00012     Document Type: Article

References (10)

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. Curry CJR, Carey JC, Holland JS, Chopra D, Fineman R, Golabi M, Sherman S, Pagon RA, Allanson J, Shulman S, Barr M, McGravey V, Dabin C, Schimke N, Ives E, Hall SD (1987): Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. Am J Med Genet 26: 45-57.
3. Honda A, Tint GS, Salen G, Batta AK, Chen TS, Shefer S (1995): Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes. J Lipid Res 36: 1595-1601.
4. Hyett JA, Clayton PT, Moscoso G, Nicolaides KH (1995): Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome. Am J Med Genet 58: 374-376.
5. Irons M, Elias ER, Salen G, Tint GS, Batta AK (1993): Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet 341: 1414.
6. Irons M, Elias ER, Tint GS, Salen G, Frieden R, Buie T, Ampola M (1994): Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient. Am J Med Genet 50: 347-352.
7. Opitz JM (1994): RSH/SLO ('Smith-Lemli-Opitz') syndrome: historical, genetic and developmental considerations. Am J Med Genet 50: 344-346.
8. Seller MJ, Russell J, Tint GS (1995): Unusual case of Smith-Lemli-Opitz syndrome 'Type II'. Am J Med Genet 56: 265-268.
9. Tint GS, Irons M, Elias ER, Batta AK, Frieden R, Chen TS, Salen G (1994): Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med 330: 107-113.
10. Tint GS, Seller M, Hughes-Benzie R, Batta AK, Shefer S, Genest D, Irons M, Elias E, Salen G (1995): Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome. J Lipid Res 36: 89-95.