[Deaf-mutism, lymphedema of the lower limbs and hematological abnormalities (acute leukemia, cytopenia) with autosomal dominant transmission].
Report of a syndrome constituted from sensorineural deaf mutism, lymphoedema of lower limbs with early onset and haematological anomalies (aucte myeloblastic leukaemia, cytopenia) in four individuals (three boys and two girls from two generations). This observation suggest autosomal dominant transmission, however recessive transmission cannot be formelly excluded.
D002648:Child; D003638:Deafness / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006402:Hematologic Diseases / Q000235:genetics*; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics; D007970:Leukopenia / Q000235:genetics; D008209:Lymphedema / Q000235:genetics*; D008297:Male; D010375:Pedigree; D013577:Syndrome
Surdi-mutite, lymphoedeme des membres inferieurs et anomalies hematologiques (leucose aigue, cytopenies) a transmission autosomique dominante.