Hurler-Scheie Syndrome (MPS I H/S) 5
General: Clinical disorder with severity midway between the Hurler and Scheie syndromes; genetic compound of the two alleles Hand S; autosomal recessive.
Ocular: Corneal clouding; chronically elevated optic disk; diminished or extinguished electroretinogram; pigmentary retinopathy; glaucoma; optic atrophy; retinal pigmentary degeneration.
Clinical: Shares some clinical features of both MPS IH (Hurler) and MPS IS (Scheie). Severe bone involvement; minor intellectual impairment (see Hurler Syndrome; Scheie Syndrome); cardiac failure; cardiomyopathy; conduction defects; valvular heart disease.
Duane TD. Clinical Ophthalmology. Philadelphia: JB Lippincott, 1987.
Frangiegh GT, Traboulsi EI, Kenyon KR. Mucopolysaccharidoses. In: Gold DH, Weingest TA, eds. The Eye in Systemic Disease. Philadelphia: JB Lippincott 1990:372-376.
Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.
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