Acral dysostosis dyserythropoiesis syndrome.
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.


CONCLUSIONS
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.
Le Merrer
M
M
Unité de Recherches sur les Handicaps Genétiques de l'Enfant, INSERM U. 393, Hôpital des Enfants Malades, Paris, France.
Girot
R
R
Parent
P
P
Cormier-Daire
V
V
Maroteaux
P
P
D000015:Abnormalities, Multiple; D000742:Anemia, Dyserythropoietic, Congenital / Q000150:complications* / Q000000981:diagnostic imaging; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005532:Foot Deformities, Congenital / Q000150:complications*; D006228:Hand Deformities, Congenital / Q000150:complications*; D006801:Humans; D007223:Infant; D008297:Male; D010388:Pelvis / Q000002:abnormalities; D011859:Radiography; D013576:Syndactyly / Q000150:complications; D014034:Toes / Q000002:abnormalities