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

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(2001). Am J Med Genet. 2002; 113(1):65–77. [PubMed: 12400068] 11. LACHMAN RS. International nomenclature and classification of the osteochondrodysplasias (1997). Pediatr Radiol. 1998; 28(10):737–44. [PubMed: 9799294] 12. MCKUSICK VA, SCOTT CI. A nomenclature for constitutional disorders of bone. J Bone Joint Surg Am. 1971; 53(5):978–86. [PubMed: 5557608] 13. NISHIMURA G, HASEGAWA T, KINOSHITA E, TANAKA Y, KUROSAWA K, YOSHIMOTO M. Newly recognized syndrome of metaphyseal undermodeling, spondylar dysplasia, and overgrowth: report of two adolescents and a child. Am J Med Genet A. 2004; 128A(2):204–8. [PubMed: 15214018] 14. RIMOIN DL. International nomenclature of constitutional diseases of bone with bibliography. Birth Defects Orig Artic Ser. 1979; 15(10):30 p. [PubMed: 389306] 15. SCHMIDT H, KAMMER B, GRASSER M, ENDERS A, ROST I, KIESS W. Endochondral gigantism: a newly recognized skeletal dysplasia with pre- and postnatal overgrowth and endocrine abnormalities. Am J Med Genet A. 2007; 143A(16):1868–75. [PubMed: 17618504] 16. SILLENCE DO, RIMOIN DL. Classification of osteogenesis imperfect. Lancet. 1978; 1(8072):1041–2. [PubMed: 76956] 17. SILLENCE DO, RIMOIN DL, DANKS DM. Clinical variability in osteogenesis imperfecta- -variable expressivity or genetic heterogeneity. Birth Defects Orig Artic Ser. 1979a; 15(5B):113– 29. [PubMed: 393318] 18. SILLENCE DO, SENN A, DANKS DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979b; 16(2):101–16. [PubMed: 458828] 19. SPRANGER J. International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases 184 of Bone. Eur J Pediatr. 1992; 151(6):407–15. [PubMed: 1628667] 20. STEVENSON DA, VISKOCHIL DH, CAREY JC. Neurofibromatosis type 1 is a genetic skeletal disorder. Am J Med Genet A. 2007; 143A(17):2082–3. author reply 2084. [PubMed: 17702004] 21. SUPERTI-FURGA A, UNGER S. Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet A. 2007; 143(1):1–18. [PubMed: 17120245] LOCOMOTOR SYSTEM vol. 19, <strong>2012</strong>, No. 3+4
group/Name of Disorder Inheritance MIM No. Locus Gene Protein 1. FGFR3 chondrodysplasia group Thanatophoric dysplasia type 1 (TD1) AD 187600 4p16.3 FGFR3 FGFR3 Thanatophoric dysplasia type 2 (TD2) AD 187601 4p16.3 FGFR3 FGFR3 Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) AD see 187600 4p16.3 FGFR3 FGFR3 Achondroplasia AD 100800 4p16.3 FGFR3 FGFR3 Hypochondroplasia AD 146000 4p16.3 FGFR3 FGFR3 Camptodactyly, tall stature and hearing loss syndrome (CATSHL) AD 187600 4p16.3 FGFR3 FGFR3 Hypochondroplasia–like dysplasia(s) AD, SP See also group 33 for craniosynostoses syndromes linked to FGFR3 mutations, as well as LADD syndrome in group 39 for another FGFR3-related phenotype 2. Type 2 collagen group and similar disorders Achondrogenesis type 2 (ACG2; Langer-Saldino) AD 200610 12q13.1 COL2A1 Type 2 collagen Platyspondylic dysplasia, Torrance type AD 151210 12q13.1 COL2A1 Type 2 collagen Hypochondrogenesis AD 200610 12q13.1 COL2A1 Type 2 collagen Spondyloepiphyseal dysplasia congenital (SEDC) AD 183900 12q13.1 COL2A1 Type 2 collagen Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type AD 184250 12q13.1 COL2A1 Type 2 collagen Kniest dysplasia AD 156550 12q13.1 COL2A1 Type 2 collagen Spondyloperipheral dysplasia AD 271700 12q13.1 COL2A1 Type 2 collagen POHYBOVÉ ÚSTROJÍ, ročník 19, <strong>2012</strong>, č. 3+4 185 Mild SED with premature onset arthrosis AD 12q13.1 COL2A1 Type 2 collagen SED with metatarsal shortening (formerly Czech dysplasia) AD 609162 12q13.1 COL2A1 Type 2 collagen Stickler syndrome type 1 AD 108300 12q13.1 COL2A1 Type 2 collagen Stickler-like syndrome(s) 3. Type 11 collagen group Stickler syndrome type 2 AD 604841 1p21 COL11A1 Type 11 collagen alpha-1 chain Marshall syndrome AD 154780 1p21 COL11A1 Type 11 collagen alpha-1 chain Fibrochondrogenesis AR 228520 1p21 COL11A1 Type 11 collagen alpha-1 chain Otospondylomegaepiphyseal dysplasia (OSMED), recessive type AR 215150 6p21.3 COL11A2 Type 11 collagen alpha-2 chain
Page 1 and 2: Pokroky ve výzkumu, diagnostice a
Page 3 and 4: POHYBOVÉ ÚSTROJÍ ročník 19, 20
Page 5 and 6: Devatenáctý ročník časopisu Po
Page 7 and 8: ScHindlerová n., Foltýnová B., H
Page 9 and 10: SlOVO čTenářůM � a wORd TO Re
Page 11 and 12: OBRázek na TiTulnÍ STRaně čaSOP
Page 13 and 14: RTG snímky z archivu Ambulantního
Page 15 and 16: SOuBORnÉ RefeRáTY � ReViewS nOS
Page 17 and 18: Nosologie by měla být užitečná
Page 19 and 20: Skupina 30 (Syndromy nadměrného v
Page 21: přiřazeny mezi jiné. Probíhají
Page 25 and 26: group/Name of Disorder Inheritance
Page 43 and 44: SOuBORnÉ RefeRáTY � ReViewS POH
Page 45 and 46: např. k metabolickému syndromu a
Page 47 and 48: ku. Ten se během školního roku v
Page 49 and 50: s použitím zvýšené PA, monitor
Page 51 and 52: měřená kaliperem) ukázalo od š
Page 53 and 54: cal fitness and body composition, A
Page 55 and 56: PůVOdnÍ PRáCe � ORiGinal PaPeR
Page 57 and 58: ty čtyři druhy materiálů s růz
Page 59 and 60: Deformace [mm] 8 7 6 5 4 3 2 1 0 0
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Page 69 and 70: PůVOdnÍ PRáCe � ORiGinal PaPeR
Page 71 and 72: Obr. 1. Zařízení pro měření d
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Obr. 2. Četnosti hodnot BMI u 33 p
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cí se podobným problémem, nebylo
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kazuiSTikY � CaSe RePORTS OllieRO
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ging of enchondromas, localized and
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Obr. 1C. RTG snímek ukazuje dvouú
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Obr. 1f. rigidní equinovarosní ko
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Obr. 1CH. RTG snímek P femuru v bo
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Obr. 2B. RTG dobrá osifikace kostn
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Obr. 2f. Resekce diafýzy v distál
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Obr. 2i. Po rekonstrukčním etapov
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ho obratu i kostní denzity. Cílen
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THe TeaM Of THe ORTHOPaediC dePaRTM
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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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surgery - the release of ITB in 199
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fig. 14 Orthopaedics / Team & Frien
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fig. 16 Guests in Lublin / Lublin o
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19a 19b 19c fig. 19 Professors from
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1925 - dead 1997), Prof. T. Karski
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Fig. 28 Guests in Lublin / Lublin o
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nosti 70 kg je poté velikost napě
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✃ PŘIHLÁŠKA řádného člena
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and maintained permanently. Our rol
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autora a jasné označení, kde bud
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RefeRenCeS References must be prese
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OznáMenÍ ÚMRTÍ OBiTuaRY zPRáVY
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Jarek Masopust prožil velmi bohat
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MySlivec r., PetráŠová Š., Mař
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COnTenTS Of VOluMe 2011 A WORD TO R
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Assoc. Professor Vaclav Smrcka, MD,
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MaříK i., ŠorMová l., zeMKová
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MariK i., SorMova l., zeMKova d., K
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Pokroky ve výzkumu, diagnostice a
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SundaY 16, SePTeMBeR 2012 Arrival o
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wedneSdaY 19, SePTeMBeR 2012 SYMPOS
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fRidaY 21, SePTeMBeR 2012 SYMPOSiuM
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note: Lectures and text slides will
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ing practical patients problems are
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Table 1. A cohort of congenital sys
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Osteogenesis imperfecta, progressiv
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This cohort of 619 probands include
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plasia), Stickler syndrome and some
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is caused by mutations in PEX7 whic
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Pycnodysostosis With the chromosoma
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aBSTRakT PRinCiPleS Of THe HiSTOPaT
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Practical information for ”nordic
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stiffness, no large curves, no big
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ling myoelectric prostheses and - a
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tus, b) varus deformity and c) the
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PROSPeCTiVe ORiGinal PaPeR POSSiBil
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At present, we provided temporary h
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20. TANNER J M, HEALY M J, et al. A
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correct the alignment, and intra me
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Conclusions z The treatment of thor
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one stage “Z” lengthening of di
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Fig. 3A Fig. 3B Fig. 4A Fig. 4B ele
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The main advantage of Si-CAP (Actif
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advised to perform numerous flexion
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Ortopedická protetika Praha s.r.o.
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3+4+Supplementum/2012 - Společnost pro pojivové tkáně

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