ISSN:
1432-1076
Keywords:
Dyserythropoietic anaemia type I
;
Polysyndactyly
;
Hypoplastic phalanges
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF02072110