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Trichothiodystrophy with sideroblastic anaemia and developmental delay.

S A Lynch·D de Berker·A R Lehmann·R J Pollitt·M M Reid·W H Lamb
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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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Anemia, SideroblasticChild, PreschoolDevelopmental DisabilitiesEctodermal DysplasiaHairHumansMaleUltrasonographyCase ReportsJournal Article

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S A Lynch, D de Berker, A R Lehmann, R J Pollitt, M M Reid, W H Lamb. 1995. Trichothiodystrophy with sideroblastic anaemia and developmental delay.. https://doi.org/10.1136/adc.73.3.249

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