title: Non-haematological traits associated with congenital dyserythropoietic anaemia type 1: a new entity emerging.
abstract: 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.
authors.affiliation: Kuwait Medical Genetics Centre, Maternity Hospital, Kuwait.
authors.forename: M A
authors.initials: MA
authors.lastname: Sabry
authors.forename: M
authors.initials: M
authors.lastname: Zaki
authors.forename: S A
authors.initials: SA
authors.lastname: al Awadi
authors.forename: Q
authors.initials: Q
authors.lastname: al Saleh
authors.forename: M S
authors.initials: MS
authors.lastname: Mattar
mesh_terms: D000015:Abnormalities, Multiple / Q000097:blood / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000742:Anemia, Dyserythropoietic, Congenital / Q000097:blood / Q000235:genetics* / Q000473:pathology; D001763:Blepharoptosis / Q000235:genetics; D001842:Bone and Bones / Q000002:abnormalities; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital; D008214:Lymphocytes / Q000473:pathology; D008297:Male; D008938:Mitosis; D010641:Phenotype; D013577:Syndrome