Pediatric Radiology

, Volume 23, Issue 1, pp 37–40 | Cite as

Smith-Lemli-Opitz syndrome type II: Report of a case with additional radiographic findings

  • T. E. Herman
  • M. J. Siegel
  • B. C. P. Lee
  • S. B. Dowton
Originals

Abstract

A phenotypically female infant with 46-XY chromosomes was found to have Smith-Lemli-Opitz syndrome, type II a rare congenital malformation syndrome with many features of the more common classic Smith-Lemli-Opitz syndrome. The patient's skeletal survey revealed characteristic and previously undescribed skeletal anomalies which are reported. In addition a lipoma of the pituitary gland was found on magnetic resonance imaging. This lesion is particularly interesting given the hypothesized steroid abnormality in Smith-Lemli-Opitz, type II syndrome, the sexual ambiguity of males with this syndrome and the similarity of this syndrome to the Pallister-Hall syndrome which characteristically has a hamartoblastoma of the hypothalamus.

Keywords

Public Health Magnetic Resonance Imaging Steroid Pituitary Gland Lipoma 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Curry CJR, Carey JC, Holland JS et al (1987) Smith-Lemli-Opitz type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. Am J Med Genet 26: 45PubMedGoogle Scholar
  2. 2.
    Donnai D, Young ID, Owen WG, Clark SA, Miller PFW, Knox WF (1986) The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia and unilobated lungs. J Med Genet 23: 64PubMedGoogle Scholar
  3. 3.
    LeMerrer M, Briard ML, Girard S, Mulliez N, Moraine C, Imbert MC (1988) Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome. J Med Genet 25: 88PubMedGoogle Scholar
  4. 4.
    Belmont JW, Hawkins E, Hejtmancik JF, Greenberg F (1987) Two cases of severe lethal Smith-Lemli-Opitz syndrome. Am J Med Genet 26: 65PubMedGoogle Scholar
  5. 5.
    Opitz JM, Lowry RB (1987) Lincoln versus Douglas again: comments on papers by Curry, Greenberg and Belmont et al. Am J Med Genet 26: 69PubMedGoogle Scholar
  6. 6.
    Patterson K, Toomey K, Chondra RS (1983) Hirschsprung disease in a 46 XY phenotypic infant girl with Smith-Lemli-Opitz syndrome. J Pediatr 103: 425PubMedGoogle Scholar
  7. 7.
    Zizka J, Maresova J, Kerekes Z et al. (1983) Intestinal aganglionosis in the Smith-Lemli-Opitz syndrome. Acta Paediatr Scand 72: 141PubMedGoogle Scholar
  8. 8.
    Lachman MF, Wright Y, Whitman DAH, Herson V, Greenstein RM (1991) Brief clinical report: a 46 XY phenotype female with Smith-Lemli-Opitz syndrome. Clin Genet 39: 136PubMedGoogle Scholar
  9. 9.
    McKeever PA, Young ID (1990) Smith-Lemli-Opitz II: a disorder of fetal adrenals? J Med Genet 27: 465PubMedGoogle Scholar
  10. 10.
    Chasalow FI, Blethen SL, Taysi K (1985) Possible abnormalities of steroid secretion in patients with Smith-Lemli-Opitz Syndrome and their parents. Steroids 46: 827PubMedGoogle Scholar
  11. 11.
    Greene C, Pitts W, Rosenfeld R, Luzzatti L (1984) Smith-Lemli-Opitz syndrome in two 46 XY infants with female external genitalia. Clin Genet 25:366PubMedGoogle Scholar
  12. 12.
    Pankau R, Partsch CJ, Funda J, Sippell WG (1992) Hypothalamic-pituitary-gonadal function in 2 infants with Smith-Lemli-Opitz syndrome. Am J Med Genet 43: 513PubMedGoogle Scholar
  13. 13.
    Cherstvoy ED, Lzjuk GI, Ostrovskaya TI, Shved IA, Kravtzova GI, Lurie IW, Gerasimovich AI (1984) The Smith-Lemli-Opitz syndrome: a detailed pathologic study as a clue to etiological heterogeneity. Virchows Arch 404A: 413Google Scholar
  14. 14.
    Singer LP, Marion RW, Li JHK (1989) Limb deficiency in an infant with Smith-Lemli-Opitz syndrome. Am J Med Genet 32: 380PubMedGoogle Scholar
  15. 15.
    Fierro M, Hartiez AJ, Harbison JW, Hay SH (1977) Smith-Lemli-Opitz syndrome: neuropathologic and ophthalmologic observations. Dev Med Child Neurol 19: 57PubMedGoogle Scholar
  16. 16.
    Garcia C, McGarry PA, Voirol M, Duncan C (1973) Neurological involvement in the Smith-Lemli-Opitz syndrome: clinical and neuropathologic findings. Dev Med Child Neurol 15: 48PubMedGoogle Scholar
  17. 17.
    Slowik F, Fazekas I, Balint K et al (1990) Intrasellar hamartomaassociated with pituitary adenoma. Acta Neuropathol 80: 328PubMedGoogle Scholar
  18. 18.
    Fujisawa I, Asato R, Nishimura K et al (1987) Anterior and posterior pituitary gland: assessment by 1.5 T MR imaging. J Comput Assist Tomogr 11:214PubMedGoogle Scholar
  19. 19.
    Donnai D, Burns J, Hughes H (1987) Smith-Lemli-Opitz syndromes: do they include the Pallister Hall syndrome? Am J Med Genet 28: 741PubMedGoogle Scholar

Copyright information

© Springer-Verlag 1993

Authors and Affiliations

  • T. E. Herman
    • 1
  • M. J. Siegel
    • 1
  • B. C. P. Lee
    • 1
  • S. B. Dowton
    • 2
  1. 1.Mallinckrodt Institute of RadiologyWashington University School of MedicineSt. LouisUSA
  2. 2.Division of Genetics, Elizabeth Mallinckrodt Department of PediatricsWashington University School of MedicineSt. LouisUSA

Personalised recommendations