Trichothiodystrophy with sideroblastic anaemia and developmental delay.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 7492166.
- Also identified by PMC identifier 1511270.
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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.
Medical subject headings
- Anemia, Sideroblastic
- Developmental Disabilities
- Hair