Atypical case of Smith-Lemli-Opitz syndrome: Implications for diagnosis

American Journal of Medical Genetics

Volumn 80, Issue 4, 1998, Pages 322-326

  Angle, Brad ^a,d   Tint, G S ^b   Yacoub, Oraib A ^c   Clark, Ann L ^a  

^a University of Louisville School of Medicine   (United States)

^b Neurology Service Veterans Affairs Center   (United States)

^c KOSAIR CHILDREN'S HOSPITAL   (United States)

^d UNIVERSITY OF LOUISVILLE SCHOOL OF MEDICINE   (United States)

Author keywords

7 dehydrocholesterol; Cholesterol metabolism; Dysmorphic features; Hydrops; Prenatal diagnosis; Smith Lemli Opitz; Unconjugated estriol

Indexed keywords

7 DEHYDROCHOLESTEROL; CHOLESTEROL OXIDASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARDIOMEGALY; CASE REPORT; CLEFT PALATE; CLINICAL FEATURE; FACE MALFORMATION; FETUS HYDROPS; HUMAN; HYPOCHOLESTEROLEMIA; KARYOTYPE 46,XY; LIMB DEFORMITY; MALE; MENTAL DEFICIENCY; NEWBORN; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME; SYNDACTYLY;

ADULT; DEHYDROCHOLESTEROLS; FATAL OUTCOME; FEMALE; FETAL DISEASES; HUMANS; INFANT, NEWBORN; MALE; PREGNANCY; PRENATAL DIAGNOSIS; SMITH-LEMLI-OPITZ SYNDROME;

EID: 0031772356     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19981204)80:4<322::AID-AJMG4>3.0.CO;2-E     Document Type: Article

References (23)

1. Abuelo DN, Tint GS, Kelley RI, Batta AK, Shefer S, Sälen G (1995): Prenatal identification of the cholesterol biosynthetic defect in the SmithLemli-Opitz syndrome by the analysis of amniotic fluid sterols. Am J Med Genet 56:281-285.
2. Blitzer MG, Kelley RI, Schwartz MF (1994): Abnormal maternal serum marker pattern associated with Smith-Lcmli-Opitz (SLO) syndrome. Am J Med Genet 55:A277.
3. Canick JA, Abuelo DN, Bradley LA, Tint GS (1997): Maternal serum marker levels in two pregnancies affected with Smith-Lemli-Opitz syndrome. Prenatal Diagn 17:187-189.
4. Canick JA, Palomaki GE, Osathanondh R (1990): Prenatal screening for trisomy 18 in the second trimester. Prenatal Diagn 10:546-548.
5. CunniffC, 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.
6. Curry CJR, Carey JC, Holland JS, Copra D, Fireman R, Golabi M, Sherman S, Pagon RA, Allanson J, Shulman S, Barr M, McGravey V, Dabiri C, Schimke M, Ives E, Hall BD (1987): Smith-Lemli-Opitz syndrome type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. Am J Med Genet 26:45-57.
7. Dallaire L, Mitchell G, Gager R, Lefebvre F, Melancon SB, Lambert M (1995): Prenatal diagnosis of Smith-Lemli-Opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid. Prenatal Diagn 15:855-858.
8. Honda M, Tint GS, Honda A, Batta AK, Chen TC, Shefer S, Sälen G (1996): Measurement of 3-hydroxysteroid A7-reductase activity in cultured skin fibroblasts utilizing ergosterol as a substrate: A new method for the diagnosis of the Smith-Lcmli-Opitz syndrome. J Lipid Res 37:2433-2438.
9. Honda A, Tint GS, Salen G, Batta AK, Chen TS, Shefer S (1995): Defective conversion of 7-dehydrochoIesterol to cholesterol in skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes. J Lipid Res 36:1595-1601.
10. Honda A, Tint GS, Salen G, Kelley RI, Honda M, Batta AK, Chen T, Shefer S (1997): Sterol concentrations in cultured Smith-Lemli-Opitz skin fibroblasts: Diagnosis of a biochemically atypical case of the syndrome. Am J Med Genet 68:282-287.
11. Hyett JA, Clayton PT, Moscoso G, Nicolaides K (1995): Increased first trimester nuchal translucency as a prenatal manifestation of SmithLemli-Opitz syndrome. Ara J Med Genet 58:374-376.
12. Irons M, Elias ER, Salen G, Tint GS, Batta AK ( 1993): Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet 341:1414.
13. Irons M, Elias ER, Tint GS, Salen G, Frieden R, Buie TM, Ampola M (1994): Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: Report of clinical and biochemical findings in 4 patients and treatment in one patient. Am J Med Genet 50:347-352.
14. Joseph DB, Uehling DT, Gilbert E, Laxova R (1987): Genitourinary abnormalities associated with Smith-Lemli-Opitz Syndrome. J Urol 137: 719-721.
15. Kelley RI (1997): A new face for an old syndrome. Am J Med Genet 65: 251-256.
16. Lachman MF, Wright Y, Whiteman DA, Herson V, Greenstein RM (1991): A 46.XY phenotypic female with Smith-Lemli-Opitz syndrome. Clin Genet 39:136-141.
17. Mills K, Mandel H, Montemagno R, Soothill P, Gershoni-Baruch R, Clayton P(1996): First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency). Pediatr Res 39: 816-819.
18. Rossiter JP, Hofman KJ, Kelley RI (1995): Smith-Lemli-Opitz syndrome: Prenatal diagnosis by quantification of cholesterol precursors in amniotic fluid. Am J Med Genet 56:272-275.
19. Sharp P, Haan E, Fletcher JM, Khong TY, Carey WF (1997): Firsttrimester diagnosis of Smith-Lemli-Opitz syndrome. Prenat Diagn 17: 355-361.
20. Shefer S, Sälen G, Batta AK, Honda A, Tint GS, Irons H, Elias ER, Chen TC, Holick MF (1995): Markedly inhibited 7-dehydrocholesterol-A7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. J Clin Invest 96:1779-1785.
21. Smith DW, Lemli L, Opitz JM (1964): A newly recognized syndrome of multiple congenital anomalies. J Pediatr 61:210-217.
22. Tint GS, Irons M, Elias E, Batta AK, Sälen G, Freetown R, Chen TS (1994): Defective cholesterol biosynthesis associated with the Smith-LemliOpitz syndrome. N Engl J Med 330:107-113.
23. 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.