NONHEMATOLOGICAL TRAITS ASSOCIATED WITH CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE-1 - A NEW ENTITY EMERGING

Dysmorphic features in three sibs with congenital dyserythropoietic an aemia type 1 are described. These findings include growth retardation/ short stature, congenital ptosis, abnormal tarsal bones, metatarsal du plication/hypoplasia, nail/phalangeal hypoplasia of fingers and toes, Madelung deformity, syndactyly of toes, and hallux valgus. The patient s also showed a very low mitotic index of their peripheral blood lymph ocyte cultures. Phenotypic heterogeneity was elicited amongst the thre e Bedouin sibs. The present report confirms the association between a subset of congenital dyserythropoietic anaemia type 1 and a specific f orm of distal limb anomalies and suggests that other traits, congenita l ptosis and low mitotic index, could represent part of the syndrome p rofile.