Smith-Lemli-Opitz syndrome: Case report and literature review

Journal of Pediatric Surgery

Volumn 35, Issue 12, 2000, Pages 1840-1842

  Danzer, E ^a   Schier, F ^a   Giggel, S ^a   Bondartschuk, M ^a  

^a JENA UNIVERSITY HOSPITAL   (Germany)

Author keywords

Smith Lemli Opitz syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHOLESTEROL SYNTHESIS; DIGESTIVE SYSTEM MALFORMATION; DISEASE COURSE; DNA DETERMINATION; FACE MALFORMATION; HERMAPHRODITISM; HUMAN; INFANT; LAPAROSCOPY; LEG MALFORMATION; MALE; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME;

EID: 0033667889     PISSN: 00223468     EISSN: None     Source Type: Journal    
DOI: 10.1053/jpsu.2000.19291     Document Type: Article

References (19)

1. Abnormal cholesterol biosynthesis as in Smith-Lemli-Opitz-syndrome disrupts normal skeletal development in the rats
2. Smith-Lemli-Opitz-syndrome: A variable clinical and biochemical phenotype
3. A typical case of Smith-Lemli-Opitz-syndrome: Implications for diagnosis
4. Highly increased CSF concentrations of cholesterol precursors in Smith-Lemli-Opitz-syndrome
5. Mutations in the human sterol delta 7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz-syndrome
6. Smith-Lemli-Opitz-syndrome-type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality
7. Smith-Lemli-Opitz-syndrome is caused by mutation in the 7-dehydrocholesterol reductase gene
8. Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz-syndrome and abnormal cholesterol metabolism
9. Clinical and biochemical screening for Smith-Lemli-Opitz-syndrome
10. Treatment of Smith-Lemli-Opitz-syndrome: Results of a multicenter trial
11. Smith-Lemli-Opitz-syndrome: Phenotypic extreme with minimal clinical findings
12. Smith-Lemli-Opitz-syndrome in two 46, XY infants with female external genitalia
13. Brief clinical report: A 46, XY phenotypic female with Smith-Lemli-Opitz-syndrome
14. Hirschsprung-Galant infantilism
15. The epidemiology of infantile hypertrophic pyloric stenosis
16. The pathological anatomy of Smith-Lemli-Opitz-syndrome
17. An autopsy case of Smith-Lemli-Opitz-syndrome
18. First trimester prenatal diagnosis of Smith-Lemli-Opitz-syndrome (7-dehydrocholesterol reductase deficiency)
19. Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz-syndrome