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. 1995 Sep;73(3):249–251. doi: 10.1136/adc.73.3.249

Trichothiodystrophy with sideroblastic anaemia and developmental delay.

S A Lynch 1, D de Berker 1, A R Lehmann 1, R J Pollitt 1, M M Reid 1, W H Lamb 1
PMCID: PMC1511270  PMID: 7492166

Abstract

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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Selected References

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