International Journal of Pediatric Otorhinolaryngology Extra
Volume 2, Issue 3 , Pages 169-172 , September 2007

Sensorineural hearing-loss in the Smith–Lemli-Opitz syndrome

  • Federica Di Berardino

      Affiliations

    • Department of Audiology/Otolaryngology-Head & Neck Surgery, University of Milan, Via Pace 9, 20100 Milano, Italy
    • Corresponding Author InformationCorresponding author. Tel.: +39 02 70126502; fax: +39 02 70126502.
    • ,
  • Dario Alpini

      Affiliations

    • Department of Otolaryngology, S. Maria Nascente Don Gnocchi, Milano, Italy
    • ,
  • Umberto Ambrosetti

      Affiliations

    • Department of Audiology/Otolaryngology-Head & Neck Surgery, University of Milan, Via Pace 9, 20100 Milano, Italy
    • ,
  • Chiara Amadeo

      Affiliations

    • Department of Audiology/Otolaryngology-Head & Neck Surgery, University of Milan, Via Pace 9, 20100 Milano, Italy
    • ,
  • Antonio Cesarani

      Affiliations

    • Department of Audiology/Otolaryngology-Head & Neck Surgery, University of Milan, Via Pace 9, 20100 Milano, Italy

Received 29 January 2007 ,Revised 3 May 2007 ,Accepted 3 May 2007.

References 

  1. Pinsky L, DiGeorge AM. A familial syndrome of facial and skeletal anomalies associated with genital abnormality in the male and normal genitals in the female: another cause of male pseudohermaphroditism. J. Pediatr. 1965;66:1049–1054
  2. Blair HR, Martin JK. A syndrome characterized by mental retardation, short stature, craniofacial dysplasia, and genital anomalies occurring in siblings. J. Pediatr. 1966;69:457–459
  3. Dallaire L, Fraser FC. The syndrome of retardation with urogenital and skeletal anomalies in siblings. J. Pediatr. 1966;69:459–460
  4. Lowry RB, Miller JR, MacLean JR. Micrognathia, polydactyly, and cleft palate. J. Pediatr. 1968;72:859–861
  5. Opitz JM. The RSH syndrome. Birth Defects. 1969;5:167–169
  6. Dallaire L. Syndrome of retardation with urogenital and skeletal anomalies (Smith–Lemli-Opitz syndrome): clinical features and mode of inheritance. J. Med. Genet. 1969;6:113–120
  7. Curry CJ, Carey JC, Holland JS, et al. Smith–Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. Am. J. Med. Genet. 1987;26:45–57
  8. Tint GS, Irons M, Elias ER, et al. Defective cholesterol biosynthesis associated with the Smith–Lemli-Opitz syndrome. N. Engl. J. Med. 1994;330:107–113
  9. Tint GS, Salen G, Batta AK, et al. Correlation of severity and outcome with plasma sterol levels in variants of the Smith–Lemli-Opitz syndrome. J. Pediatr. 1995;127:82–87
  10. Battaile KP, Steiner RD. Smith–Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis. Mol. Genet. Metab. 2000;71:154–162
  11. Porter FD. RSH/Smith–Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis. Mol. Genet. Metab. 2000;71:163–174
  12. Nowaczyk MJ, McCaughey D, Whelan DT, et al. Incidence of Smith–Lemli-Opitz syndrome in Ontario, Canada. Am. J. Med. Genet. 2001;102:18–20
  13. Abuelo DN, Tint GS, Kelley R, et al. Prenatal detection of the cholesterol biosynthetic defect in the Smith–Lemli-Opitz syndrome by the analysis of amniotic fluid sterols. Am. J. Med. Genet. 1995;56:281–285
  14. Dallaire L, Mitchell G, Giguere R, et al. Prenatal diagnosis of Smith–Lemli-Opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid. Prenat. Diagn. 1995;15:855–858
  15. Rossiter JP, Hofman KJ, Kelley RI. Smith–Lemli-Opitz syndrome: prenatal diagnosis by quantification of cholesterol precursors in amniotic fluid. Am. J. Med. Genet. 1995;56:272–275
  16. Mills K, Mandel H, Montemagno R, et al. First trimester prenatal diagnosis of Smith–Lemli-Opitz syndrome (7-dehydrocholesterol) reductase deficiency. Pediatr. Res. 1996;39:816–819
  17. Sharp P, Haan E, Fletcher JM, et al. First-trimester diagnosis of Smith–Lemli-Opitz syndrome. Prenat. Diagn. 1997;17:355–361
  18. Palomaki GE, Bradley LA, Knight GJ, et al. Assigning risk for Smith–Lemli-Opitz syndrome as part of 2nd trimester screening for Down's syndrome. J. Med. Screen. 2002;9:43–44
  19. Loeffler J, Utermann G, Witsch-Baumgartner M. Molecular prenatal diagnosis of Smith–Lemli-Opitz syndrome is reliable and efficient. Prenat. Diagn. 2002;22:827–830
  20. Yu H, Lee MH, Starck L, Elias ER, Irons M, Salen G, et al. Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith—Lemli-Opitz (RSH) syndrome. Hum Mol Genet. 2000;22(May(9)):1385–1391
  21. Lin AE, Ardinger HH, Ardinger RH, et al. Cardiovascular malformations in Smith–Lemli-Opitz syndrome. Am. J. Med. Genet. 1997;68:270–278
  22. Fierro M, Martinez AJ, Harbison JW, et al. Lemli-Opitz syndrome: neuropathological and ophthalmological observations. Dev. Med. Child Neurol. 1977;19:57–62
  23. Joint Committee on Infant Hearing Year Position Statement: Principles and Guidelines for Early Hearing Detection and Intervention Programs. Pediatrics 106 (2000) 798–817.
  24. Fried K, Fraser WI. Smith–Lemli-Opitz syndrome in an adult. J. Mental Def. Res. 1972;16(March (1)):30–34
  25. Meyer C, Witte J, Hildmann A, Hennecke KH, Schunck KU, Maul K, et al. Neonatal screening for hearing disorders in infants at risk: incidence, risk factors, and follow-up. Pediatrics. 1999;104(October (4 Pt 1)):900–904

PII: S1871-4048(07)00035-4

doi: 10.1016/j.pedex.2007.05.002

International Journal of Pediatric Otorhinolaryngology Extra
Volume 2, Issue 3 , Pages 169-172 , September 2007

Article Tools