• 1

    Tint SG, Irons M, Elias ER, et al: Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. .N Engl J Med 330::107. ,1994. .

  • 2

    Janssen HCJP, Schaap C, Vandevijver N, et al: Two sibs with microcephaly, hygroma coli, renal dysplasia, and cutaneous syndactyly: a new lethal MCA syndrome. ?J Med Genet 36::481. ,1999. .

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 3

    Smith DW, Lemli L, Opitz JM: A newly recognized syndrome of multiple congenital anomalies. .J Pediatr 64::210. ,1964. .

  • 4

    Dallaire L: Syndrome of retardation with urogenital and skeletal anomalies (Smith-Lemli-Opitz syndrome): clinical features and mode of inheritance. .J Med Genet 6::113. ,1969. .

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 5

    Singer LP, Marion RW, Li JK: Limb deficiency in an infant with Smith-Lemli-Opitz syndrome. .Am J Med Genet 32::380. ,1989. .

  • 6

    Charman CR, Ryan A, Tyrrell RM, et al: Photosensitivity associated with the Smith-Lemli-Opitz syndrome. .Br J Dermatol 138::885. ,1998. .

  • 7

    Ryan AK, Bartlett K, Clayton P, et al: Smith Lemli Opitz syndrome: a variable phenotype caused by 7 dehydrocholesterol reductase deficiency. .J Med Genet 34::23. ,1997. .

    • Search Google Scholar
    • Export Citation
  • 8

    Kolf-Clauw M, Chevy F, Ponsart C: Abnormal cholesterol biosynthesis as in Smith-Lemli-Opitz syndrome disrupts normal skeletal development in the rat. .J Lab Clin Med 131::222. ,1998. .

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 9

    Irons M, Elias ER, Tint GS, et al: 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. ,1994. .

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 10

    Kolf-Clauw M, Chevy F, Wolf C: Inhibition of 7-dehydrocholesterol reductase by the teratogen AY9944: a rat model for Smith-Lemli-Opitz syndrome. .Teratology 54::115. ,1996. .

    • PubMed
    • Search Google Scholar
    • Export Citation
  • Cunniff C, Kratz LE, Mosher A: Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. .Am J Med Genet 68::263. ,1997. .

    • PubMed
    • Search Google Scholar
  • Fraser FC, Jequier S, Chen MF: Chondrodysplasia, situs inversus totalis, cleft epiglottis and larynx, hexadactyly of hands and feet, pancreatic cystic dysplasia, renal dysplasia/absence, micropenis and ambiguous genitalia, imperforate anus. .Am J Med Genet 34::401. ,1989. .

    • PubMed
    • Search Google Scholar
  • Opitz, JM: RSH/SLO (“Smith-Lemli-Opitz”) syndrome: historical, genetic, and developmental considerations. .Am J Med Genet 50::344. ,1994. .

    • PubMed
    • Search Google Scholar

Smith-Lemli-Opitz Syndrome: A Genetic Disorder with Pedal Manifestations

Jordan S. Sheff392 Broadway, Newport, RI 02840

Search for other papers by Jordan S. Sheff in
Current site
Google Scholar
PubMed
Close
 DPM
Restricted access