A PRESENTATION BY DR. BHARAT MAHESHWARI
CHONDRO-OSTEODYSTROPHY <ul><li>  </li></ul><ul><li>SYNONYMS : </li></ul><ul><ul><li>MORQUIO SYNDROME. </li></ul></ul><ul><...
CHONDRO-OSTEODYSTROPHY <ul><li>  </li></ul><ul><li>AETIOLOGY & PATHOLOGY :  </li></ul><ul><ul><li>CONGENITAL METABOLIC DIS...
CHONDRO-OSTEODYSTROPHY <ul><li>  </li></ul><ul><li>FEATURES :  </li></ul><ul><ul><li>  DWARFISM (TRUNCAL). </li></ul></ul>...
CHONDRO-OSTEODYSTROPHY <ul><li>  </li></ul><ul><li>FEATURES : </li></ul><ul><ul><li>LONG BONES ARE THICK AND STOUT. </li><...
X-RAY PELVIS AP VIEW SHOWING GROSS DYSPLASIA AT BOTH HIPS INCREASED JOINT SPACE DUE TO  ACCUMULATION  OF ABNORMAL CARTILAGE
X-RAY BOTH KNEES AP VIEW SHOWING DYSPLASIA WITH B/L VALGUS DEFORMITY
X-RAYS OF DORSO-LUMBAR SPINE AP AND LAT VIEWS SHOWING KYPHOSIS AT D/L JUNCTION, PLATYSPONDLY (FLAT VERTEBRAE) AND CENTRAL ...
X-RAYS OF WRIST AND ELBOW AP VIEWS SHOWING DYSPLASTIC JOINTS, SHORT AND STOUT BONES.
CHONDRO-OSTEODYSTROPHY <ul><li>  </li></ul><ul><li>TREATMENT: </li></ul><ul><ul><li>CURRENTLY NO CURE IS AVAILABLE FOR THI...
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Morquio syndrome

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Clinical and Radiographical Features of Morquio Syndrome by Dr Bharat Maheshwari

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Morquio syndrome

  1. 1. A PRESENTATION BY DR. BHARAT MAHESHWARI
  2. 2. CHONDRO-OSTEODYSTROPHY <ul><li>  </li></ul><ul><li>SYNONYMS : </li></ul><ul><ul><li>MORQUIO SYNDROME. </li></ul></ul><ul><ul><li>MORQUIO-BRAILSFORD'S DISEASE. </li></ul></ul><ul><ul><li>MUCOPOLYSACCHARIDOSIS - TYPE  IV. </li></ul></ul><ul><ul><li>OSTEO-CHONDRODYSTROPHIA DEFORMANS. </li></ul></ul><ul><li>INCEDENCE : 1 IN 7,00,000. </li></ul>
  3. 3. CHONDRO-OSTEODYSTROPHY <ul><li>  </li></ul><ul><li>AETIOLOGY & PATHOLOGY :  </li></ul><ul><ul><li>CONGENITAL METABOLIC DISORDER OF AUTOSOMAL RECESSIVE INHERITANCE. </li></ul></ul><ul><ul><li>A LYSOSOMAL STORAGE DISEASE WITH DEFICIENCY OF ENZYMES                                 N-ACETYLGALACTOSAMINE-6-SULFATASE IN TYPE A AND BETA-GALACTOSIDASE IN TYPE B. </li></ul></ul><ul><ul><li>ACCUMALATION OF KERATAN SULFATE AND CHONDROITIN 6-SULFATE. </li></ul></ul>
  4. 4. CHONDRO-OSTEODYSTROPHY <ul><li>  </li></ul><ul><li>FEATURES :  </li></ul><ul><ul><li>  DWARFISM (TRUNCAL). </li></ul></ul><ul><ul><li>DORSO LUMBAR KYPHOSIS. </li></ul></ul><ul><ul><li>BELL SHAPED CHEST. </li></ul></ul><ul><ul><li>DYSPLASIA OF MULTIPLE JOINTS SPECIALLY AFFECTING  HIP AND KNEE. </li></ul></ul><ul><ul><li>GENU VALGUM, PES PLANUS AND SHORT SUNKEN NECK. </li></ul></ul><ul><ul><li>FACIES AND INTELLIGENCE ARE NORMAL IN MOST CASES. </li></ul></ul><ul><ul><li>CORNEAL CLOUDING AND CARDIAC VALVULAR DEFECTS. </li></ul></ul>
  5. 5. CHONDRO-OSTEODYSTROPHY <ul><li>  </li></ul><ul><li>FEATURES : </li></ul><ul><ul><li>LONG BONES ARE THICK AND STOUT. </li></ul></ul><ul><ul><li>PROGRESSIVE WEAKNESS OF MUSCULATURE AND JOINT LAXITY. </li></ul></ul><ul><ul><li>ATLANTO-OCCIPITAL SUBLUXATION. . </li></ul></ul><ul><li>DIAGNOSIS: </li></ul><ul><ul><li>CLINICAL AND RADIOLOGICAL EXAMINATION. </li></ul></ul><ul><ul><li>URINARY MEASUREMENT OF EXCESS GLYCOSAMINOGLYCANS . </li></ul></ul><ul><ul><li>ENZYME ASSAY OF FIBROBLAST CULTURE. </li></ul></ul><ul><ul><li>PRENATAL DIAGNOSIS BY AMNIOCENTESIS OR CHORIONIC VILLUS SAMPLING AND EX. OF DEFECTIVE GENES. </li></ul></ul>
  6. 6. X-RAY PELVIS AP VIEW SHOWING GROSS DYSPLASIA AT BOTH HIPS INCREASED JOINT SPACE DUE TO  ACCUMULATION  OF ABNORMAL CARTILAGE
  7. 7. X-RAY BOTH KNEES AP VIEW SHOWING DYSPLASIA WITH B/L VALGUS DEFORMITY
  8. 8. X-RAYS OF DORSO-LUMBAR SPINE AP AND LAT VIEWS SHOWING KYPHOSIS AT D/L JUNCTION, PLATYSPONDLY (FLAT VERTEBRAE) AND CENTRAL BEAKING (TOUNGE LIKE PROJECTION ANTERIOR TO THE BODY.) PATHOGNOMIC RADIOLOGICAL SIGNS.
  9. 9. X-RAYS OF WRIST AND ELBOW AP VIEWS SHOWING DYSPLASTIC JOINTS, SHORT AND STOUT BONES.
  10. 10. CHONDRO-OSTEODYSTROPHY <ul><li>  </li></ul><ul><li>TREATMENT: </li></ul><ul><ul><li>CURRENTLY NO CURE IS AVAILABLE FOR THIS DISORDER. </li></ul></ul><ul><ul><li>ENZYME REPLACEMENT THERAPY DO PROVIDE SOME HELP IN REDUCING NEUROLOGICAL SYMPTOMS AND DELAYING MUSCULO-SKELETAL MANIFESTATIONS. </li></ul></ul><ul><ul><li>BONE MARROW AND UMBILICAL CORD BLOOD TRANSPLANTATION ALSO PROVIDE LIMITED SUCCESS. </li></ul></ul><ul><ul><li>  MEDICAL AND SYMPTOMATIC CARE, PHYSICAL THERAPY AND EXERCISE HELP IN IMPROVING QUALITY OF LIFE. </li></ul></ul>
  11. 11. THANK YOU

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