1+2/2010 - Společnost pro pojivové tkáně

The lecture summarizes longstandingexperience of the authors with the diagnosisof children and adults with osteochondrodysplasias(or skeletal and/or bonedysplasias).The number of congenital skeletaldisorder is growing up with the newscientific knowledge. At present, we introducedinto clinical praxis the 7 th versionof nosology and classification of geneticskeletal disorders – 2006 revision in theAmbulant centre for Defects of LocomotorApparatus. The new nosology providesan updatet overview of recognized entitieswith skeletal involvement and of theunderlying gene defects, it has practicaldiagnostic help, facilitates the recognizitionof new entities, and direct researchin skeletal biology and genetic disorders.Three hundred seventy – two differentconditions were included and placed in 37groups defined by molecular, biochemicaland or radiographic criteria.Clinical, anthropological and radiologicalexamination together with genetic,biochemical examination (including markersof bone metabolism) and also moleculargenetic examination, histologicala electronmicroscopical investigation werethe basic prerequisite to specify diagnosisand to monitor the course of bone disordersnot only in proband but at effectedmembers of the family, too. Knowledgeof syndromology, clinical findings andradiographic features is prerequisite fordifferential diagnosis and confirmation ofgenetic diagnosis.During 16 yrs existence of the AmbulantCentre for Defects of Locomotor Apparatusin Prague we diagnosed over 100 nosologicunits in a cohort over 500 patientscategorized into 34 groups. accordingto 2006 Revision of the Nosology andClassification of Genetic Disorders of boneis summarized:FGFR 3 group, type 2 colagen group.type 11 colagen group, sulfation disordersgroup, perlecan group, filamin group, shortrib dysplasia, multiple ephiphyseal dysplasiaand pseudoachondroplasia group,metaphyseal dysplasias, spondylometaphysealdysplasias, spondyloepimetaphysealdysplasias, moderate spondyloplasticdysplasias (s.c. brachyolmias), acromelicdysplasias, mesomelic dysplasias, slenderbone dysplasia group, dysplasias with multiplejoint dislocations, chondrodysplasiapunctata group, neonatal osteoscleroticdysplasias, increased bone density group(without modification of bone shape),increased bone density group with metaphysealand/or diaphyseal involvement,decreased bone density group, defectivemineralization group, lysosomal storagediseases with skeletal involvement, osteolysisgroup, disorganized developomentof skeletal components group, cleidocranialdysplasia group, craniosynostosis syndromesand other cranial ossificationdisorders, dysostoses with predominantcraniofacial involvement, dysostoses withpredominant vertebral and costal involvement.patellar dysostoses, brachydactylieswith or without extraskeletal manifestations,limb hypoplasia – reductions defectsgroup, polydactyly – syndactyly – triphalangismgroup, defects in joint formationand synostoses.The lecture is supported by overviewof diagnostic achievements.The final shape of skeleton of BDpatients is consequence of genetic defects,mechanical stimuli and functional adaptationof bones. Skeletal and joint deformitiesor malformations are considered asarthritic disposition and lead to biome-POHYBOVÉ ÚSTROJÍ, ročník 17, 2010, č. 1+2 131