Prenatal death in Smith-Lemli-Opitz/RSH syndrome [1]

American Journal of Medical Genetics

Volumn 138 A, Issue 1, 2005, Pages 61-65

  Putnam, Angelica R ^a   Szakacs, Juliana G ^a,b   Opitz, John M ^a   Byrne, Janice L B ^a  

^a UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

7 DEHYDROCHOLESTEROL REDUCTASE; MYELIN; OXIDOREDUCTASE; UNCLASSIFIED DRUG;

AMNION FLUID; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME 11Q; DHCR7 GENE; DISEASE SEVERITY; FETUS DEATH; GENE; GENE IDENTIFICATION; GESTATIONAL AGE; HUMAN; INFANT; LETTER; MALE; PHENOTYPE; PREMATURITY; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME;

FATAL OUTCOME; FEMALE; FETAL DISEASES; HUMANS; INFANT, NEWBORN; KARYOTYPING; PREGNANCY; SMITH-LEMLI-OPITZ SYNDROME; ULTRASONOGRAPHY, PRENATAL;

EID: 24344501612     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30246     Document Type: Letter

References (19)

1. Angle B, Tint GS, Yacoub OA, Clark AI. 1998. Atypical case of Smith-Lemli-Opitz syndrome: Implications for diagnosis. Am J Med Genet 80:322-326.
2. Bzdúch V, Behúlová D, Skodová J. 2000. Incidence of Smith-Lemli-Opitz syndrome in Slovakia. Am J Med Genet 90:260.
3. 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.
4. Irons M, Elias EE, Salen G, Tint GS, Batta AK. 1993. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet 341:1414.
5. Kelley RI. 2000. Inborn errors of cholesterol biosynthesis. Adv Pediatr 47: 1-53.
6. Moebius FF, Fitzky BU, Lee JN, Paik YK, Glossmann H. 1998. Molecular cloning and expression of the human delta 7-sterol reductase. PNAS USA 95:1899-1902.
7. Ness GC, Lopez D, Borrego O, Gilbert-Barness E. 1997. Increased expression of low-density lipoprotein receptors in a Smith-Lemli-Opitz infant with elevated bilirubin levels. Am J Med Genet 68:294-299.
8. Nowaczyk MJM, Whelan DT, Heshka TW, Hill RE. 1999. Smith-Lemli-Opitz syndrome, a treatable inherited error of metabolism causing mental retardation. CMAJ 161:165-170.
9. Nowaczyk MJM, Nakamura LM, Waye JS. 2001. DHCR7 and Smith-Lemli-Opitz syndrome. Clin Invest Med 24:311-317.
10. Nowaczyk MJM, Eng B, Waye JS, Farrell SA, Sirkin WL. 2003. Fetus with renal agenesis and Smith-Lemli-Opitz syndrome, Letter to the editor. Am J Med Genet 120A:305-307.
11. Opitz JM. 2001. A little cholesterol in time. Clin Invest Med 24:318-320.
12. Opitz JM, Howe JJ. 1969. The Meckel syndrome (dysencephalia splanchnocystica, the Gruber syndrome). BD:OAS V(2):167-179.
13. Opitz JM, Gilbert-Barness E, Ackerman J, Lowichik A. 2002. Cholesterol and development: The RSH ("Smith-Lemli-Opitz") syndrome and related conditions. Pediatr Pathol Mole Med 21:153-181.
14. Seller MJ, Russell J, Tint GS. 1995. Unusual case of Smith-Lemli-Opitz syndrome "Type II." Am J Med Genet 56:265-268.
15. Shackleton CHL, Roitman E, Kratz L, Kelley RI. 2001. Dehydro-oestriol and dehydropregnanetriol are candidate analytes for diagnosis of Smith-Lemli-Opitz syndrome. Prenat Diagn 21:207-212.
16. Smith DW, Lemli L, Opitz JM. 1964. A newly recognized syndrome of multiple congenital anomalies. J Pediatr 64:210-217.
17. Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD. 1998. Mutations in the human sterol delta-7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Am J Hum Genet 63:55-62.
18. Waterham HR, Wijburg FA, Hennekam RCM, Vreken P, Poll-The BT, Dorland L, Duran M, Jira PE, Smeitink JA, Wevers RA, Wanders RJ. 1998. The Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. Am J Hum Genet 63:329-338.
19. Wigglesworth JS, Singer DB. 1998. Textbook of fetal and perinatal pathology, 2nd edn. Malden, MA: Blackwell Science, Inc. pp. 603-607.