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Case Reports
. 1995 May;154(5):384-8.
doi: 10.1007/BF02072110.

Acral dysostosis dyserythropoiesis syndrome

M Le Merrer  1 , R Girot, P Parent, V Cormier-Daire, P Maroteaux
Affiliations
Case Reports

Acral dysostosis dyserythropoiesis syndrome

M Le Merrer et al. Eur J Pediatr. 1995 May.

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 of nails and short or absent phalanges, polysyndactyly of the fourth metacarpal. One of them had also areas of depigmentation.

Conclusion: The association of congenital 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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References

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