Aase-Smith syndrome; Aase syndrome
DefinitionThis section has been translated automatically.
Probably autosomal dominant inherited rare syndrome with congenital insufficiency of erythropoiesis and triphalangia of the thumbs.
Occurrence/EpidemiologyThis section has been translated automatically.
About 20 cases have been published in the literature worldwide.
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EtiopathogenesisThis section has been translated automatically.
Not known. No clustering of chromosome breaks.
Clinical featuresThis section has been translated automatically.
Triphalangia of the thumbs, normochrome-normocytic anemia, antimongoloid position of the lid, hemangiomas, pigmentation disorders of the skin (inconstant).
LiteratureThis section has been translated automatically.
- Aase JM, Smith DW (1969) Congenital anemia and triphalangeal thumbs. A new syndrome. J Pediatr 74: 471-474
- D'Avanzo M et al (2002) Favorable effect of splenectomy over a five year follow-up in a patient with Aase-Smith syndrome. Haematologica 87: ECR34
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