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肝脾肿大、驼背、角膜混浊、代超、颈短、惊厥
Mucopolysaccharidosis is lysosomal storage disease; glycosaminoglycan accumulation; skeletal dysplasia/mental retardation/hernia.
Coarse facies; skeletal dysplasia; hernia; corneal clouding; mental retardation; recurrent URI
Lysosomal enzyme deficiency; autosomal recessive/X-linked.
Enzyme replacement; bone marrow transplant; supportive
Genetic counseling; prenatal diagnosis.
It is recommended to visit the pediatrics department; before the visit you may first book an appointment and connect with experts through this platform.
Warm reminder: The above information is provided for health education reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek care at a regular hospital in time.
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