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- W2113599324 abstract "Trichothiodystrophy (TTD) is a rare, autosomal recessive disease, characterised by brittle, sulfur deficient hair and multisystem abnormalities. A systematic literature review identified 112 patients ranging from 12 weeks to 47 years of age (median 6 years). In addition to hair abnormalities, common features reported were developmental delay/intellectual impairment (86%), short stature (73%), ichthyosis (65%), abnormal characteristics at birth (55%), ocular abnormalities (51%), infections (46%), photosensitivity (42%), maternal pregnancy complications (28%) and defective DNA repair (37%). There was high mortality, with 19 deaths under the age of 10 years (13 infection related), which is 20-fold higher compared to the US population. The spectrum of clinical features varied from mild disease with only hair involvement to severe disease with profound developmental defects, recurrent infections and a high mortality at a young age. Abnormal characteristics at birth and pregnancy complications, unrecognised but common features of TTD, suggest a role for DNA repair genes in normal fetal development." @default.
- W2113599324 created "2016-06-24" @default.
- W2113599324 creator A5003691102 @default.
- W2113599324 creator A5005457224 @default.
- W2113599324 creator A5009127298 @default.
- W2113599324 creator A5050465443 @default.
- W2113599324 date "2008-06-25" @default.
- W2113599324 modified "2023-10-14" @default.
- W2113599324 title "Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations" @default.
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