Contents

Search

Alder's syndrome; Alder-Reilly anomaly

Epidemiology: - rare Pathology: - mucopolysaccharide defect - accumulation of partially degraded mucopolysaccharides in lysosomes - large basophilic inclusions in all types of mature leukocytes, & sometimes in precursors - inclusions may be seen in the bone marrow more frequently than in peripheral blood - leukocytes appear to function normally Genetics: - autosomal recessive Clinical manifestations: - gargoylism & dwarfism

General

genetic disease of the blood/bone marrow leukocyte disorder syndrome

References

  1. MediaLab: Alder Anomaly (Alder-Reilly Anomaly ) http://www.medialabinc.net/spg29011/alder_anomaly_alder_reilly_anomaly_.aspx