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%) |