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Trichothiodystrophy with dysmyelination and central osteosclerosis.

Publication ,  Journal Article
Harreld, JH; Smith, EC; Prose, NS; Puri, PK; Barboriak, DP
Published in: AJNR Am J Neuroradiol
January 2010

Trichothiodystrophy (TTD) is a rare group of autosomal recessive disorders of DNA repair unified by the presence of sulfur-deficient brittle hair. We report a 3-year-old boy with classic clinical features of TTD, including ichthyosis, alopecia, developmental delay, and tiger-tail banding of the hair shaft on polarizing microscopy. Brain MR imaging showed both diffuse dysmyelination and osteosclerosis, findings that, in combination, may be specific for TTD.

Duke Scholars

Published In

AJNR Am J Neuroradiol

DOI

EISSN

1936-959X

Publication Date

January 2010

Volume

31

Issue

1

Start / End Page

129 / 130

Location

United States

Related Subject Headings

  • Trichothiodystrophy Syndromes
  • Osteosclerosis
  • Nuclear Medicine & Medical Imaging
  • Male
  • Magnetic Resonance Imaging
  • Humans
  • Demyelinating Diseases
  • Child, Preschool
  • 3406 Physical chemistry
  • 3209 Neurosciences
 

Citation

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ICMJE
MLA
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Harreld, J. H., Smith, E. C., Prose, N. S., Puri, P. K., & Barboriak, D. P. (2010). Trichothiodystrophy with dysmyelination and central osteosclerosis. AJNR Am J Neuroradiol, 31(1), 129–130. https://doi.org/10.3174/ajnr.A1665
Harreld, J. H., E. C. Smith, N. S. Prose, P. K. Puri, and D. P. Barboriak. “Trichothiodystrophy with dysmyelination and central osteosclerosis.AJNR Am J Neuroradiol 31, no. 1 (January 2010): 129–30. https://doi.org/10.3174/ajnr.A1665.
Harreld JH, Smith EC, Prose NS, Puri PK, Barboriak DP. Trichothiodystrophy with dysmyelination and central osteosclerosis. AJNR Am J Neuroradiol. 2010 Jan;31(1):129–30.
Harreld, J. H., et al. “Trichothiodystrophy with dysmyelination and central osteosclerosis.AJNR Am J Neuroradiol, vol. 31, no. 1, Jan. 2010, pp. 129–30. Pubmed, doi:10.3174/ajnr.A1665.
Harreld JH, Smith EC, Prose NS, Puri PK, Barboriak DP. Trichothiodystrophy with dysmyelination and central osteosclerosis. AJNR Am J Neuroradiol. 2010 Jan;31(1):129–130.

Published In

AJNR Am J Neuroradiol

DOI

EISSN

1936-959X

Publication Date

January 2010

Volume

31

Issue

1

Start / End Page

129 / 130

Location

United States

Related Subject Headings

  • Trichothiodystrophy Syndromes
  • Osteosclerosis
  • Nuclear Medicine & Medical Imaging
  • Male
  • Magnetic Resonance Imaging
  • Humans
  • Demyelinating Diseases
  • Child, Preschool
  • 3406 Physical chemistry
  • 3209 Neurosciences