ParameterAgeSpine X-ray EchocardiogrsAudiometry Liver on abdominal ultrasound Brain MRISpine MRIAuditoryevokedpotentialsHip X-ray Others |
Onset14 months Hyperlordo: oval-shap vertebra bodiesim Mitral dyspk grade 1 prolapse mild mitt tricuspid aortic regurgitaNormal Normal liveiEnlarged perivasci spaces Radiology rc within normal liNormal Not done |
49 Weeks ERT26 months sis, Oval-shaped >ed vertebral 1 bodies,improvedhyperlordosisisia, Mild aortic root dilatation,, mitral valve *al, dysplasia with , and regurgitation and mildtion prolapse, mild left ventriculai dilatationNot done ' size Not doneNot done jlar;port Not done mitsNot doneMild bilateral acetabular dysplasia |
98 Weeks ERT38 months Not doneNot doneNot done Liver slightly increased in size Not doneNot doneNot done Not done |
110 Weeks ERT41 months No scoliotic curve, significant improvement o kyphotic curve, oval-shaped vertebral bodie Moderate left ventricular hypertrophy am dilatation, grade II aortic insufficiency, mitral valve witl grade ll-lll insufficiencyNot done Not done1Not done Not doneNot done Not done |
122 Weeks ERT44 months , Not donefsLeft ventricular hypertrophy am d dilatation, mitra ; valve prolapse, mild grade II insufficiency, h grade II aortic insufficiency, lef atrial dilatationNot doneNot doneNot doneNot doneNot doneNot done |
136 Weeks ERT47.8 months Not doneNot doned.1tNot done Not doneNot doneNot doneNot doneNot doneGait analysis: Gait pattern with minorabnormalities of joint kinemati with no significai functional impaσ |
149 Weeks ERT50 monthsNot doneModerate concentric le ventricular hypertrc mild aortic insufficie mild mitral prolapse moderate insufficierNot doneNot doneNormalMild cervical spine sten of the foramen mag odontoid peg hypop dural thickening, hypoplasia of the posterior arch of C Lumbar hypoplasia < and L2. Mil thoracic scoliosisNormalNot donePolysomnography: IAH mildcsitt |
196 Weeks ERT62 monthsSignificant improvemen scoliosis and lordos oval-shaped vertebr bodiesift Mild-to-moderate >phy, concentric left :ncy, ventricular hypertrc ; and thickened tricuspid, icy insufficiency, mild compromise of thickened, myxoma anterior mitral leafl∙ mitral prolapse, mil tricuspid regurgitati FEVI 65%Not doneNot doneNot doneosis Not donenum>lasia,1.Df LI spineNot doneNot done2 still |
219 Weeks ERT67 months t of Not done ;is-alMild compromise of thickened, myxoma iphy, anterior mitral leafl mild severe regurgitatior thickened tricuspid aortic valve severe, tous insufficiency, severe et, atrial and ventricula d dilatation, leftventr on, diastolic diameter Acm, mild-to-moderi left ventricular concentric hypertrcNot doneNot doneNot doneNot doneNormal right ear. Prole absolute latencies o left ear conductive hearing lossNot doneNormal liver and kidne abdominal CT scan |
23 1 Weeks ERT70 months Not doneNot donetouset,l,mild i left .ricular 1. 3 itejphyNot done Not doneNot doneNot done>nged Not done if theMild bilateral acetabular dysplasiays on |
270 Weeks ERT73 monthsNo evidence of scoliosis, oval-shaped vertebral bodiesModerate mitral insufficiency; ring diameter 2.4 cm, tricuspid 2.32, mild left heart dilatation, tricuspid aortic valve, mild insufficiency, no stenosis, mild tricuspid regurgitation FEVI 79%NormalNormalWithin normal limitsNot doneNormalNot doneNormal bone density according to age |