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Table 1 Demographics and the pre-diagnostic data from the medical chart review of patients diagnosed with Morquio A syndrome

From: Overcoming the barriers to diagnosis of Morquio A syndrome

Information from medical charts
Age at symptom onset mean (median; min, max) months
 All n =18 77.1 (42.0; 0, 540)
 Without outlier n =16 53.0 (42.0; 3.0, 192.0)
Age at first consultation mean (median; min, max) months  
 All n =18 78.9 (42.0; 4.5, 540.0)
 Without outlier n =16 54.8 (42.0; 12.0, 192.0)
Age at diagnosis mean (median; min, max) months
 All n =18 113.8 (60.0; 7.0, 540.0)
 Without outlier n =16 93.9 (60.0; 14.0, 324.0)
Diagnoses identified for study inclusion N (%)
 Australia 7 (39%)
 South Korea 4 (22%)
 Taiwan 3 (17%)
 Japan 2 (11%)
 Thailand 1 (6%)
 Hong Kong 1 (6%)
Gender N (%)
 Female 14 (78%)
 Male 4 (22%)
Pre-diagnostic key symptoms and findings N (%)
 Short stature 13 (72%)
 Pectus carinatum 9 (50%)
 Genu valgum 8 (44%)
 Spinal abnormalities 7 (39%)
 Gibbus/kyphosis 5 (28%)
 Scoliosis 3 (17%)
Atlantoaxial instability 3 (17%)
 Hip dysplasia 4 (22%)
 Impacted joint range of motion 2 (11%)
 Joint pain 2 (11%)
 Advanced bone age 2 (11%)
 Dermal melanocytosis 2 (11%)
 Spinal cord compression 2 (11%)
 Overgrowth within one year of age (“big baby”) 2 (11%)
• Other skeletal abnormalities experienced by patients included arachnodactyly shortened distal phalanges, dysplastic and fragmented proximal femoral epiphysis, flattening of femoral heads, acetabular irregularities, joint space narrowing
• Other general symptoms experienced by patients included upper respiratory infections, hernia repair, unsettled behavior
Impediments to diagnosis N (%)
 Atypical symptoms 5 (28%)
 Subtle symptoms 4 (22%)
 Symptoms associated with other diseases 4 (22%)
 Marginally elevated or normal uGAG levels 4 (22%)
 Delayed clinical suspicion 2 (11%)
 Other radiologic differentials (pseudoachondroplasia) 1 (6%)
Misdiagnosis and other clinical diagnoses prior to Morquio A diagnosis N (%)
 Spondyloepiphyseal Dysplasias 5 (28%)
 Gibbus/kyphosis 5 (28%)
 Scoliosis 3 (17%)
 Craniosynostosis 2 (11%)
 Advanced bone/dental age 2 (11%)
 Overgrowth 2 (11%)
 Genu valgum 2 (11%)
 Corneal opacity 2 (11%)
 Cardiac conduction abnormality 2 (11%)
 Legg-Calvé-Perthes Disease 1 (6%)
 Leri-Weill syndrome 1 (6%)
 Marfan syndrome 1 (6%)
 Sotos syndrome 1 (6%)
 Pseudoachondroplasia 1 (6%)
 Truncal hypotonia 1 (6%)
 Hypertolorism 1 (6%)
 Splenomegaly 1 (6%)
 Growth hormone deficiency 1 (6%)
 Torticollis 1 (6%)
 Sleep obstruction (snoring) 1 (6%)
 Cervical lymphadenopathy 1 (6%)
 Apnea/hypopnoea 1 (6%)
 Rheumatoid arthritis 1 (6%)
 Harrison sulcus 1 (6%)
 Lumbar lordosis 1 (6%)
 Reversed Madelung deformity 1 (6%)
 Autism 1 (6%)
Specialist responsible for Morquio A diagnosis N (%)
 Geneticist 10 (56%)
 Radiologist 5 (28%)
 Pediatrician 2 (11%)
 Endocrinologist 1 (6%)
  1. Symptoms are listed separately if experienced by ≥2 patient with confirmed Morquio A syndrome. Any symptom experienced by <2 patients is combined in “Other.”