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Mucopolysaccharidosis

 
  • proportionate dwarfism, complex sugars in urine

Morquio’s: AR, most common, keratan sulfate urine, 18-24  months with waddling gait, knock-knees, thoracic kyphosis, cloudy cornea, normal intelligence, AA instability(odontoid hypoplasia)

Hurler’s sydrome: AR, most severe, dermatan/heparan sulfate urine, mental retardation

Hunter’s Syndrome:sex-linked recessive, dermatan/heparan sulfate urine, mental retardation

Sanfilippo’s Syndrome: heparan sulfate urine, mental retardation

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