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

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group/Name of Disorder Inheritance MIM No. Locus Gene Protein Opsismodysplasia AR 258480 190 See also: Thanatophoric dysplasia, types 1 and 2 (group 1); ACG2 and Torrance dysplasia (group 2); Fibrochondrogenesis (group 3); Achondrogenesis type 1B (ACG1B, group 4); and Metatropic Dysplasia (TRPV4 group) 15. Acromelic dysplasias Trichorhinophalangeal dysplasia types 1/3 AD 190350 8q24 TRPS1 Zinc finger transcription factor Trichorhinophalangeal dysplasia type 2 (Langer-Giedion) AD 150230 8q24 TRPS1 and EXT1 Zinc finger transcription factor and Exostosin 1 Acrocapitofemoral dysplasia AR 607778 2q33-q35 IHH Indian hedgehog Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1 AR 218330 3q21 IFT122 Intraflagellar transport 122 (Chlamydomonas, homolog of) Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2 AR 613610 2p24.1 WDR35 WD repeat-containing protein 35 Geleophysic dysplasia AR 231050 9q34.2 ADAMTSL2 ADAMTS-like protein 2 Geleophysic dysplasia, other types AR Acromicric dysplasia AD 102370 Acrodysostosis AD 101800 LOCOMOTOR SYSTEM vol. 19, 2012, No. 3+4 Angel-shaped phalango-epiphyseal dysplasia (ASPED) AD 105835 Saldino-Mainzer dysplasia AR 266920 See also: Short rib dysplasias group 16. Acromesomelic dysplasias Acromesomelic dysplasia type Maroteaux (AMDM) AR 602875 9p13-12 NPR2 Natriuretic peptide receptor 2 Grebe dysplasia AR 200700 20q11.2 GDF5 Growth and Differentiation Factor 5 Fibular hypoplasia and complex brachydactyly (Du Pan) AR 228900 20q11.2 GDF5 Growth and Differentiation Factor 5 Acromesomelic dysplasia with genital anomalies AR 609441 4q23-24 BMPR1B Bone morphogenetic protein receptor 1B Acromesomelic dysplasia, Osebold-Remondini type AD 112910 17. Mesomelic and rhizo-mesomelic dysplasias Dyschondrosteosis (Leri-Weill) Pseudo-AD 127300 Xpter-p22.32 SHOX Short stature – homeobox gene Langer type (homozygous dyschondrosteosis) Pseudo-AR 249700 Xpter-p22.32 SHOX Short stature – homeobox gene Omodysplasia AR 258315 13q31-q32 GPC6 Glypican 6 Robinow syndrome, recessive type AR 268310 9q22 ROR2 Receptor tyrosine kinase-like orphan receptor 2 Robinow syndrome, dominant type AD 180700
group/Name of Disorder Inheritance MIM No. Locus Gene Protein Mesomelic dysplasia, Korean type AD 2q24-32 Duplication in HOXD gene cluster Mesomelic dysplasia, Kantaputra type AD 156232 2q24-32 Duplications in HOXD gene cluster Mesomelic dysplasia, Nievergelt type AD 163400 Mesomelic dysplasia, Kozlowski-Reardon type AR 249710 Mesomelic dysplasia with acral synostoses (Verloes-David-Pfeiffer type) AD 600383 8q13 SULF1 and SLCO5A1 Heparan sulfate 6-O-endosulfatase 1 and solute carrier organic anion transporter family member 5A1 Mesomelic dysplasia, Savarirayan type (Triangular Tibia-Fibular Aplasia) SP 605274 18. Bent bones dysplasias Campomelic dysplasia (CD) AD 114290 17q24.3-25.1 SOX9 SRY-box 9 Stüve-Wiedemann dysplasia AR 601559 5p13.1 LIFR Leukemia Inhibitory Factor Receptor Kyphomelic dysplasia, several forms 211350 Bent bones at birth can be seen in a variety of conditions, including osteogenesis imperfecta, Antley-Bixler syndrome, cartilage-hair hypoplasia, Cummings syndrome, hypophosphatasia, dyssegmental dysplasia, TD, ATD, and others 19. Slender bone dysplasia group 3-M syndrome (3M1) AR 273750 6p21.1 CUL7 Cullin 7 3-M syndrome (3M2) AR 612921 2q35 OBSL1 Obscurin-like 1 Kenny-Caffey dysplasia type 1 AR 244460 1q42-q43 TBCE Tubulin-specific chaperone E POHYBOVÉ ÚSTROJÍ, ročník 19, 2012, č. 3+4 191 Kenny-Caffey dysplasia type 2 AD 127000 Microcephalic osteodysplastic primordial dwarfism type 1/3 (MOPD1) AR 210710 2q Microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2; Majewski type) AR 210720 21q PCNT2 Pericentrin 2 XL/AD 300290 IMAGE syndrome (intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia, and genital anomalies) Osteocraniostenosis SP 602361 Hallermann-Streiff syndrome AR 234100 See also Cerebro-arthro-digital dysplasia 20. Dysplasias with multiple joint dislocations Desbuquois dysplasia (with accessory ossification centre in digit 2) AR 251450 17q25.3 CANT1 Desbuquois dysplasia with short metacarpals and elongated phalanges (Kim type) AR 251450 17q25.3 CANT1 Desbuquois dysplasia (other variants with or without accessory ossification centre) AR Pseudodiastrophic dysplasia AR 264180
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 and 22: přiřazeny mezi jiné. Probíhají
Page 23 and 24: group/Name of Disorder Inheritance
Page 27: 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
Page 61 and 62: 9. OLFAT, M. et al. Effect of Terra
Page 63 and 64: change their states and structure i
Page 65 and 66: Each patient has the record: name n
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Page 69 and 70: PůVOdnÍ PRáCe � ORiGinal PaPeR
Page 71 and 72: Obr. 1. Zařízení pro měření d
Page 73 and 74: Obr. 2. Četnosti hodnot BMI u 33 p
Page 75 and 76: cí se podobným problémem, nebylo
Page 77 and 78: 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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