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Acral dysostosis dyserythropoiesis syndrome
M Le Merrer1, R Girot, P Parent
1Unité de Recherches sur les Handicaps Genétiques de l'Enfant, INSERM U. 393, Hôpital des Enfants Malades, Paris, France.
Unlabelled:
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.