Skip to main content

Table 2 Clinical findings before or at initiation of enzyme replacement therapya

From: Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series

Case Corneal clouding Hearing loss Joint/skeletal abnormalities Coarse face Abdominal abnormalities Cardiovascular disease Other
1 Yes (mild) No Wrist laxity, shoulder stiffness, hip dysplasia, enlarged head, dysostosis multiplex, pectus carinatum No Hepatomegaly, umbilical hernia No Hypospadias, recurrent respiratory infections, CTS
2 Yes Conductive type C Wrist laxity, genu valgum, pectus carinatum, increased lumbar lordosis, mild kyphosis, dysostosis multiplex Yes (mild) No No Recurrent respiratory infections,
tonsillar hypertrophy
3 No No Wrist laxity, genu valgum,
hip dysplasia,
pectus carinatum, minimal lumbar scoliosis, dysostosis multiplex
Yes (mild) No No Recurrent respiratory infections,
tonsillar hypertrophy
4 Yes (minimal) Conductive Wrist laxity, elbow stiffness, mild kyphosis, scoliosis, genu valgum, pectus carinatum, dysostosis multiplex Yes (mild) Hepatosplenomegaly Mild mitral insufficiency Recurrent pulmonary infections
5 Yes (mild) NA Mild wrist laxity, hip dysplasia, genu valgum, pectus carinatum, mild kyphosis, dysostosis multiplex Yes (mild) Hepatomegaly, umbilical hernia Mitral valve thickening, mild mitral/aortic insufficiency Recurrent respiratory infections,
CTS, moderate upper airway obstruction due to adenoid and tonsillar hypertrophy, fecal incontinence
6 Yes (minimal) Conductive type B & C and sensorineural Wrist laxity, mild joint stiffness, genu valgum, pectus carinatum, mild kyphoscoliosis, dysostosis multiplex Yes (mild) Hepatomegaly, umbilical hernia Mitral/aortic valve thickening, mild mitral insufficiency, respiratory sinus arrhythmia, Recurrent respiratory infections,
VA right eye 5/10, adenoid/tonsillar hypertrophy
7 Yes No Wrist laxity, joint stiffness, genu valgum, pectus carinatum, kyphosis, dysostosis multiplex Yes (moderate) No No Recurrent respiratory infections,
VA 8/10 both eyes, papilledema, adenoid/tonsillar hypertrophy
8 Yes (mild) Conductive type B & C Wrist laxity, mild joint stiffness, genu valgum, hip dysplasia, ankle deformities, mild pectus carinatum, mild kyphosis, thoracolumbar scoliosis, dysostosis multiplex Yes (Moderate) Hepatomegaly Mild aortic and mitral insufficiency Recurrent respiratory infections,
adenoid/tonsillar hypertrophy
9 Yes (mild) Sensorineural Wrist laxity, joint stiffness, pectus excavatum, kyphoscoliosis, genu valgum, bilateral patellar dislocation, dysostosis multiplex Yes
(Moderate-Severe)
Hepatosplenomegaly Aortic insufficiency, mild aortic stenosis, mild mitral insufficiency Recurrent respiratory infections,
adenoid/tonsillar hypertrophy, muscle weakness
10 Yes (mild) Sensorineural Wrist laxity, mild joint stiffness, genu valgum, pectus excavatum, thoracolumbar scoliosis, dysostosis multiplex Yes (mild) Hepatomegaly Mild mitral insufficiency Recurrent respiratory infections,
adenoid/tonsillar hypertrophy
  1. aFor case 7, physical examination data were first reported at 0.3 years after treatment initiation
  2. CTS: carpal tunnel syndrome; NA: not available; VA: visual acuity