mucopolysaccharidosis-7; Sly syndrome; MPS7
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Pathology
- associated with non-immune hydrops fetalis
Genetics
- autosomal recessive
- associated with defects in GUSB
Clinical manifestations
- mild mental retardation
- somewhat coarse facies
- gingivitis
- organomegaly
- sometimes corneal clouding
Laboratory
- excessive dermatan sulfate & heparan sulfate in the urine
- diagnosis confirmed by measuring the GUSB in leukocytes
More general terms
Additional terms
References
- ↑ Tietz Textbook of Clinical Chemistry, 2nd ed. Burtis CA & Ashwood ER (eds), WB Saunders Co, Philadelphia PA, 1993, pg 2152