Abstract
The term congenital dyserythropoietic anaemia (CDA) designates a group of rare but well defined erythrocytic disorders. Type I is defined by macrocytosis and megaloblastic changes of the bone marrow cells. Two unrelated children with CDA are described with associated defects: absence phalanges, polysyndactyly of the fourth metacarpal. One of them had also areas of depigmentation.
Conclusion
The association of congential dyserythropoietic anaemia with morphological defects of hands and feet is suggested to constitute a new syndrome caused by a single morphogenetic gene.
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Abbreviations
- CDA :
-
congenital dyserythropoietic anaemia
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Le Merrer, M., Girot, R., Parent, P. et al. Acral dysostosis dyserythropoiesis syndrome. Eur J Pediatr 154, 384–388 (1995). https://doi.org/10.1007/BF02072110
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DOI: https://doi.org/10.1007/BF02072110