Trichothiodystrophy with sideroblastic anaemia and developmental delay.
نویسندگان
چکیده
منابع مشابه
Trichothiodystrophy with sideroblastic anaemia and developmental delay.
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...
متن کاملMutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).
Mutations in genes encoding proteins that are involved in mitochondrial heme synthesis, iron-sulfur cluster biogenesis, and mitochondrial protein synthesis have previously been implicated in the pathogenesis of the congenital sideroblastic anemias (CSAs). We recently described a syndromic form of CSA associated with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Here ...
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Transfusion dependent congenital sideroblastic anaemia occurred in infancy in two unrelated girls. One girl developed early organ failure which was not prevented by standard chelation treatment. The combination of modest iron burden and putative intrinsic mitochondrial dysfunction could have accounted for the clinical picture. The other girl remained well, receiving regular transfusion and stan...
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Occupational exposure to various chemicals, including vinyl chloride, silica dust, epoxy resin, benzene, trichloroethylene, perchloroethylene, and other solvents, has been described as a potential provoking factor of systemic sclerosis (SSc) and scleroderma like disorders.' However, the precise contribution made by occupational environmental factors to the occurrence of scleroderma remains unkn...
متن کاملLinkage analysis of a large pedigree with hereditary sideroblastic anaemia.
A large pedigree showing a history of pyridoxine responsive X linked sideroblastic anaemia was screened with several polymorphic DNA markers from the X chromosome. Linkage analysis between each marker and disease status was performed, giving a maximum two point lod score of 3.64 at zero recombination with the microsatellite marker PGK1P1 at Xq11.2-12. Close linkage to PGK at Xq13.3, one of the ...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1995
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.73.3.249