title: Autosomal recessive onychotrichodysplasia, chronic neutropenia and mild mental retardation. Delineation of the syndrome.
abstract: This report describes and discusses the occurrence in two sisters of a syndrome consisting of onychotrichodysplasia, chronic neutropenia and mild mental retardation. Family studies revealed parental consanguinity and another possibly affected sister, who died in childhood. Analysis of these cases together with one previously reported case permits the delineation of a distinct syndrome probably caused by an autosomal recessive mutation.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D000380:Agranulocytosis / Q000235:genetics*; D002648:Child; D002908:Chronic Disease; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D009264:Nails, Malformed; D009503:Neutropenia / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome