Clinical case: Vermis hypoplasia with features of Smith-Lemli-Opitz syndrome

International Journal of Neuroscience

Volumn 117, Issue 4, 2007, Pages 443-451

  Koutsouraki, Ephrosyni ^a   Markou, Ekaterini ^a   Karlovasitou, Anna ^a   Costa, Vasiliki ^a   Baloyannis, Stavros ^a  

^a ARISTOTLE UNIVERSITY MEDICAL SCHOOL   (Greece)

Author keywords

Cerebellar hypoplasia; Intractable seizures; Joubert syndrome; Low plasma cholesterol; Smith Lemli Opitz syndrome; Syndactyly

Indexed keywords

ADOLESCENT; ARTICLE; ATAXIA; BRAIN DISEASE; CASE REPORT; CEREBELLUM VERMIS; CHOLESTEROL BLOOD LEVEL; DIAGNOSTIC IMAGING; DISEASE ASSOCIATION; EPILEPSY; GENITAL SYSTEM DISEASE; GYNECOMASTIA; HUMAN; HYPOPLASIA; INTRACTABLE EPILEPSY; JOUBERT SYNDROME; MALE; MENTAL DEFICIENCY; MICROGNATHIA; MUSCLE HYPOTONIA; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; OBESITY; SMITH LEMLI OPITZ SYNDROME; SYNDACTYLY; TONGUE DISEASE; TREMOR; VERMIS HYPOPLASIA;

ADOLESCENT; CEREBELLUM; CHOLESTEROL; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION; SMITH-LEMLI-OPITZ SYNDROME;

EID: 33846987927     PISSN: 00207454     EISSN: 15635279     Source Type: Journal    
DOI: 10.1080/00207450600592271     Document Type: Article

References (10)

1. Adams, R., & Victor, M. (1996). Principles of neurology, 5th ed. New York: McGraw-Hill, Inc.
2. Brett, E. M. (1991). Paediatric neurology, 2nd ed. New York: Churchill Livingstone.
3. Dyken, P., & Krawiecki, N. (1883). Neurodegenerative diseases of infancy and childhood. Annals of Neurology, 13, 351.
4. Ford, F. R. (1973). Diseases of the nervous system in infancy, childhood and adolescence, 6th ed. Spingfield, IL: Charles C. Thomas.
5. Huttenlocher, P. R., & Hapke, R. J. (1990). A follow-up study of intractable seizures in childhood. Annals of Neurology, 28, 699.
6. Irons, M. (1997). Treatment of Smith-Lemli-Opitz syndrome: Results of a multicenter trial. American Journal of Pediatrics, 68, 311-314.
7. Johnson, V. P. (1975). Smith-Lemli-Opitz sybdrome: Review and report of two affected siblings. Zeitung der Kinderheilkunder, 119, 221-234.
8. Menkes, J. H., & Sarnat, H. B. (2002). Child neurology, 6th ed. New York: Lippincot Williams and Wilkins.
9. Smith, D. W., Lemli, L., & Opitz, J. M. (1964). A newly recognized syndrome of multiple congenital anomalies. Journal of Pediatrics, 64, 210-217.
10. Tint, G. S. (1994). Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. New England Journal of Medicine, 330, 107-113.