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A case of Thalassaemia Major with Mucopolysaccharidosis


  • Department of Paediatrics, Baroda Medical College & SSG Hospital, Vadodara, India


We present a case of a male infant, with Thalassaemia Major who also had facial dysmorphism suggestive of Mucopolysaccharidosis, which was detected with a urinary screening test. This is probably the first time that two rare disorders like Thalassaemia Major and Mucopolysaccharidosis have coexisted in the same patient.


Facial Dysmorphism, Organomegaly, Urinary Screening.

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