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Logo of archdischArchives of Disease in ChildhoodVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
Arch Dis Child. Sep 1995; 73(3): 249–251.
PMCID: PMC1511270
Trichothiodystrophy with sideroblastic anaemia and developmental delay.
S A Lynch, D de Berker, A R Lehmann, R J Pollitt, M M Reid, and W H Lamb
Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne.
A patient with sideroblastic anaemia, development delay, and trichothiodystrophy is presented. Trichothiodystrophy is a feature of several autosomal recessive diseases. Photosensitivity, failure to thrive, and developmental delay are commonly observed in affected cases. X linked inheritance accounts for the bulk of cases with sideroblastic anaemia. This case highlights the importance of routine hair microscopy in cases of atypical ectodermal dysplasia.
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