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Pediatrics Inborn Errors of Metabolism ff604516

'Cloudy cornea' is a feature of?

A
Hurler's disease
B
Morquio's disease
C
Maroteaux Lamy disease
D
All of the above
High-Yield Explanation
Ans. D. All of the above. (Ref Essential Paediatrics by OP Ghai 7th/pg. 637)'Cloudy cornea' is known to be a feature of Hurler's disease/IH, Scheie's disease/IS, Morquio's disease/IV and Maroteaux Lamy disease/VI.C/f of mucopolysaccharidoses:Eponyms/MPS numbersMentalretardationCoarse faciesHepatospleno-megalyDysostosismultiplexCorneal clouding1. Hurler/IH+++++2. Scheie's/IS----+3. Hunter/U++++-4. Sanfilipo/lll+----5. Morquio/IV---++6. Maroteaux-Lamy / VI---++7. Sly/VII--++-Features of Hurler Syndrome:# H: Hepatosplenomegaly# U: Ugly facies# R: Recessive (AR)# L: L-iduronidase deficiency# E: Eyes (Cornea) clouded# R: Retarded mentally# S: Short stubby fingers

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