Non-haematological traits associated with congenital dyserythropoietic anaemia type 1: a new entity emerging

Dysmorphic features in three sibs with congenital dyserythropoietic anaemia type 1 are described. These findings include growth retardation/short stature, congenital ptosis, abnormal tarsal bones, metatarsal duplication/hypoplasia, nail/phalangeal hypoplasia of fingers and toes, Madelung deformity, syndactyly of toes, and hallux valgus. The patients also showed a very low mitotic index of their peripheral blood lymphocyte cultures. Phenotypic heterogeneity was elicited amongst the three Bedouin sibs. The present report confirms the association between a subset of congenital dyserythropoietic anaemia type 1 and a specific form of distal limb anomalies and suggests that other traits, congenital ptosis and low mitotic index, could represent part of the syndrome profile.