Mucopolysaccharidosis I-H [Hurler's]
PJO-Pakistan Journal of Ophthalmology. 1987; 3 (3): 80-81
in English
| IMEMR
| ID: emr-9629
ABSTRACT
A 7-year-old girl had large and diffusely cloudy corneas. Course facial [gargoyle-like] features, hypertelorism, large protuberant tongue, dwarfism with skeletal abnormalities, short and stubby hands, thick skin with hypertrichosis, respiratory and cardiac disease, mental retardation, and excessive urinary acid mucopolysaccharides [dermatan sulfate and heparan sulphate] and histopathologic features of tissue biopsy confirmed the diagnosis of classic Hurler's disease
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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Mucopolysaccharidosis I
Type of study:
Case report
Limits:
Female
/
Humans
Language:
English
Journal:
Pak. J. Ophthalmol.
Year:
1987
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