3+4+Supplementum/2012 - Společnost pro pojivové tkáně

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Bone” [1970]. The “Nomenclature” was meant to bring together experts in radiology, clinical genetics and pediatrics to agree on the denomination and classification of skeletal disorders, syndromes and metabolic diseases that were being newly described. Revisions have been prepared in 1977, 1983, 1992, and 1997. Following the establishment of the International Skeletal Dysplasia Society (ISDS) in 1999, and to cope with the increasing complexity of information, revisions of the Nosology have been delegated to an expert group nominated ad hoc within the ISDS to ensure an adequate representation of clinical, radiological and molecular expertise – 2001 and 2006 revisions (Superti-Furga and Unger 2007). In the 2010 revision, 456 conditions were included and placed in 40 groups defined by molecular, biochemical and/or radiographic criteria. Of these conditions, 316 were associated with mutations in one or more of 226 different genes, ranging from common, recurrent mutations to “private” found in single families or individuals. Thus, the Nosology is a hybrid between a list of clinically defined disorders, waiting for molecular clarification, and an annotated database documenting the phenotypic spectrum produced by mutations in a given gene. The criteria used for inclusion of individual disorders were unchanged from the previous revision in 2006. They were: 1. significant skeletal involvement, corresponding to the definition of skeletal dysplasias, metabolic bone disorders, dysostoses, and skeletal malformation and/or reduction syndromes, 2. publication and/or listing in MIM (meaning that observations should not 316 14 th Prague-Sydney-Lublin find their way into the Nosology before they achieve peer-reviewed publication status), 3. genetic basis proven by pedigree or very likely based on homogeneity of phenotype in unrelated families, 4. nosologic autonomy confirmed by molecular or linkage analysis and/or by the presence of distinctive diagnostic features and of observation in multiple individuals or families. The first aim of the Nosology is to provide a reference list, and only secondarily to help in the diagnostic process. It must therefore coexist with other classifications that are based either on the clinical and radiographic approach to diagnosis, or the affected molecular systems and pathways. As more and more resources are published on the World Wide Web, crosslinking between classifications and databases may facilitate their simultaneous use. dysplasias vs. dysostoses Dysostoses are disorders affecting individual bones or group of bones. In contrast to the “dysplasias”, that arise frequently from defects in structural proteins, metabolic processes or in growth plate regulation, the dysostoses often arise from embryonic morphogenic defects and are thus more closely related to multiple malformation syndromes. Since the first inclusion of dysostoses in the 2001 revision, the number of “dysostoses” included in the Nosology has grown significantly. The present revision includes an even larger number of dysostoses reflecting the advances made in identifying their molecular basis. The boundaries between skeletal dysplasias and dysostoses, metabolic and
Table 1. A cohort of congenital systemic defects of locomotor apparatus diagnosed at the Ambulant Centre for Defects of Locomotor Apparatus in Prague in years 1994–2011. This cohort of 619 probands classified according to Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision (1) includes 112 nosologic units that are categorized into 36 groups. Genetic disorders of Bone number 1. fGfR3 group 94 Achondroplasia 60 Hypochondroplasia 34 2. Type 2 collagen group 18 Spondyloepiphyseal dysplasia congenita 7 Kniest dysplasia 2 Spondyloperipheral dysplasia 2 SED with metatarsal shortening (formerly Czech dysplasia) 6 Stickler syndrome 1 1 3. Type 11 collagen group 2 Stickler syndrome type 2 2 4. Sulphation disorders group 10 Diastrophic dysplasia 5 Chondrodysplasia with congenital joint dislocations, CHST3 type (recessive Larsen syndrome) 2 Ehlers-Danlos syndrome 3 5. Perlecan group 2 Schwartz-Jampel syndrome (Chondrodystrophic myotonia, myotonic chondrodystrophy) 2 6. aggrecan group 1 Familial ostechondritis dissecans 1 7. filamin group 6 Frontometaphyseal dysplasia 2 Osteodysplasty Melnick-Needles 1 Larsen syndrome 2 Spondylo-carpal-tarsal dysplasia 1 8. TRPV4 group 12 Metatropic dysplasia (various forms) 4 Spondyloepimetaphyseal dysplasia, Maroteaux type (Pseudo-Morquio syndrome type 2) 2 Spondylometaphyseal dysplasia Kozlowski type 4 Brachyolmia, AD type 2 9. Short-rib dysplasia (with or without polydactyly) group 6 Chondroektodermal dysplasia (Ellis-van Creveld dysplasia) 5 Thoracolaryngopelvic dysplasia (Barnes syndrome) 1 10. Mulitple epiphyseal dysplasia & pseudoachondroplasia group 65 Pseudoachondroplasia 11 Multiple epiphyseal dysplasia (MED), other types 50 Familial hip dysplasia (Beukes) 4 ambul_centrum@volny.cz 317
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ScHindlerová n., Foltýnová B., H
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SlOVO čTenářůM � a wORd TO Re
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RTG snímky z archivu Ambulantního
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SOuBORnÉ RefeRáTY � ReViewS nOS
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Nosologie by měla být užitečná
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Skupina 30 (Syndromy nadměrného v
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group/Name of Disorder Inheritance
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SOuBORnÉ RefeRáTY � ReViewS POH
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např. k metabolickému syndromu a
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Obr. 1CH. RTG snímek P femuru v bo
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ho obratu i kostní denzity. Cílen
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fig. 3a, 3b, 3c Wiktor Dega (3a) He
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fig. 7 Building of Paediatric Hospi
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9c 9a 9b fig. 9a, 9b, 9c Guests in
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Page 195 and 196: Ortopedická protetika Praha s.r.o.
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