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. 2021 Oct 22;16:445. doi: 10.1186/s13023-021-02063-1

Table 1.

Epidemiological and clinical features of MPS VII Iberian cohort

Patient Age at diagnosis/sex Clinical manifestations MPS VII treatment
1 8 years/M Cognitive delay, coarse face, quadriplegia, chest deviations, thoracic kyphosis None
2 12 months/F Clubfoot, hip dysplasia, scoliosis, mild aortic thickening, corneal clouding, respiratory issues Bone marrow and umbilical cord transplants
3 2 years/M Coarse face, dysostosis, splenomegaly, macrocephaly, psychomotor delay, hip dysplasia, hernias Vestronidase
4 14 months/M Hydrops fetalis, hypospadias, skeletal deformities, scoliosis, hepatic hemangiomas Vestronidase
5 18 months/M Hydrops fetalis, breathing issues, cognitive and growth delay, severe scoliosis, mild valvular deficiency Vestronidase
6 2 years/M Severe trunk issues, lower limb hyperreflexia, hepatomegaly, hernias, cognitive delay Vestronidase
7 26 months/F Hydrops fetalis, hip dysplasia, cognitive delay, ENT issues, spinal deformities, osteoporosis Vestronidase
8 5 months/M Dysmorphic signs, hepatomegaly, hernias, developmental delay, heart hypertrophy None
9 3 months/M Hepatomegaly, psychomotor delay, epilepsy with focal seizures Vestronidase

F: Female; M: Male; ENT: ear, nose, throat; MPS: Mucopolysaccharidosis