Two cases of congenital dyserythropoietic anaemia type I associated with unusual skeletal abnormalities of the limbs.
This report describes the cases of two young female patients with congenital dyserythropoietic anaemia (CDA) type I who presented similar hand and foot skeletal abnormalities: lack of distal phalanges and nails, and syndactyly. Up to now, some morphological malformations have been described in association with CDA type I but there is no report of skeletal defects. These two cases are suggestive of a possible association between this hereditary anaemia and specific skeletal abnormalities of the distal extremities.
Department of Paediatric Haematology, University of Louvain Medical School, Brussels, Belgium.
B
B
Brichard
C
C
Vermylen
J M
JM
Scheiff
J L
JL
Michaux
J
J
Ninane
G
G
Cornu
D000015:Abnormalities, Multiple; D000328:Adult; D000742:Anemia, Dyserythropoietic, Congenital / Q000150:complications*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D013576:Syndactyly / Q000150:complications*; D014034:Toes / Q000002:abnormalities*