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PT  - JOURNAL ARTICLE
AU  - Harreld, J.H.
AU  - Smith, E.C.
AU  - Prose, N.S.
AU  - Puri, P.K.
AU  - Barboriak, D.P.
TI  - Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
AID  - 10.3174/ajnr.A1665
DP  - 2010 Jan 01
TA  - American Journal of Neuroradiology
PG  - 129--130
VI  - 31
IP  - 1
4099  - http://www.ajnr.org/content/31/1/129.short
4100  - http://www.ajnr.org/content/31/1/129.full
SO  - Am. J. Neuroradiol.2010 Jan 01; 31
AB  - SUMMARY: 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.