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

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group/Name of Disorder Inheritance MIM No. Locus Gene Protein Thrombocythemia with distal limb defects AD 3q27 THPO Thrombopoietin Holt-Oram syndrome AD 142900 12q24.1 TBX5 T-box gene 5 202 Okihiro syndrome (Duane – radial ray anomaly) AD 607323 20q13 SALL4 SAL-like 4 Cousin syndrome AR 260660 1p13 TBX15 T-box gene 15 Roberts syndrome AR 268300 8p21.1 ESCO2 Homolog of Establishment of Cohesion - 2 Split-hand-foot malformation with long bone deficiency (SHFLD1) AD 119100 1q42.2-q43 Split-hand-foot malformation with long bone deficiency (SHFLD2) AD 610685 6q14.1 Split-hand-foot malformation with long bone deficiency (SHFLD3) AD 612576 17p13.1 Tibial hemimelia AR 275220 Tibial hemimelia-polysyndactyly-triphalangeal thumb AD 188770 Acheiropodia AR 200500 7q36 LMBR1 Putative receptor protein Tetra-amelia XL 301090 Tetra-amelia AR 273395 17q21 WNT3 Wingless-type MMTV integration site family, member 3 Ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) AD 106260 3q27 P63 (TP63) Tumor Protein p63 LOCOMOTOR SYSTEM vol. 19, 2012, No. 3+4 Ectrodactyly-ectodermal dysplasia cleft-palate syndrome Type 3 (EEC3) AD 604292 3q27 P63 (TP63) Tumor Protein p63 Ectrodactyly-ectodermal dysplasia cleft-palate syndrome type 1 (EEC1) AD 129900 7q11.2-12.3 Ectrodactyly-ectodermal dysplasia-macular dystrophy syndrome (EEM) AR 225280 16q22 CDH3 Cadherin 3 Limb-mammary syndrome (including ADULT syndrome) AD 603273 3q27 P63 (TP63) Tumor Protein p63 Split hand-foot malformation, isolated form, type 4 (SHFM4) AD 605289 3q27 P63 (TP63) Tumor Protein p63 Split hand-foot malformation, isolated form, type 1 (SHFM1) AD 183600 7q21.3-22.1 Split hand-foot Malformation, isolated form, type 2 (SHFM2) XL 313350 Xq26 Split hand-foot malformation, isolated form, type 3 (SHFM3) AD 600095 10q24 FBXW4 Dactylin Split hand-foot malformation, isolated form, type 5 (SHFM5) AD 606708 2q31 Al-Awadi Raas-Rothschild limb-pelvis hypoplasia-aplasia AR 276820 3p25 WNT7A Wingless-type MMTV integration site family, member 7A Fuhrmann syndrome AR 228930 3p25 WNT7A Wingless-type MMTV integration site family, member 7A RAPADILINO syndrome AR 266280 8q24.3 RECQL4 RECQ Protein-like 4 Adams-Oliver syndrome AD/AR 100300 Femoral hypoplasia-unusual face syndrome (FHUFS) SP/AD? 134780
group/Name of Disorder Inheritance MIM No. Locus Gene Protein Femur-fibula-ulna syndrome (FFU) SP? 228200 Hanhart syndrome (Hypoglossia-hypodactylia) AD 103300 Scapulo-iliac dysplasia (Kosenow) AD 169550 Note: the particularly complex genetic basis of Fanconi anemia and its complementation groups is acknowledged but not further listed in this Nosology. The Reader is referred to MIM or to specialized reviews. - See also CHILD in group 20 and the mesomelic and acromesomelic dysplasias. 39. Polydactyly-Syndactyly-Triphalangism group Preaxial polydactyly type 1 (PPD1) AD 174400 7q36 SHH Sonic Hedgehog Preaxial polydactyly type 1 (PPD1) AD 174400 Preaxial polydactyly type 2 (PPD2)/Triphalangeal thumb (TPT) AD 174500 7q36 SHH Sonic Hedgehog Preaxial polydactyly type 3 (PPD3) AD 174600 Preaxial polydactyly type 4 (PPD4) AD 174700 7p13 GLI3 Gli-Kruppel Family Member 3 Greig cephalopolysyndactyly syndrome AD 175700 7p13 GLI3 Gli-Kruppel Family Member 3 Pallister-Hall syndrome AD 146510 7p13 GLI3 Gli-Kruppel Family Member 3 Synpolydactyly (complex, fibulin1 - associated) AD 608180 22q13.3 FBLN1 Fibulin 1 Synpolydactyly AD 186000 2q31 HOXD13 Homeobox D13 Townes-Brocks syndrome (Renal-Ear-Anal-Radial syndrome) AD 107480 16q12.1 SALL1 SAL-like 1 Lacrimo-auriculo-dento-digital syndrome (LADD) AD 149730 10q26.12 FGFR2 Fibroblast growth factor receptor 2 POHYBOVÉ ÚSTROJÍ, ročník 19, 2012, č. 3+4 203 Lacrimo-auriculo-dento-digital syndrome (LADD) AD 149730 4p16.3 FGFR3 Fibroblast growth factor receptor 3 Lacrimo-auriculo-dento-digital syndrome (LADD) AD 149730 5p13-p12 FGF10 Fibroblast growth factor 10 Acrocallosal syndrome AR 200990 7p13 Acro-pectoral syndrome AD 605967 7q36 Acro-pectoro-vertebral dysplasia (F-syndrome) AD 102510 2q36 Mirror-image polydactyly of hands and feet (Laurin-Sandrow syndrome) AD 135750 7q36 SHH Sonic Hedgehog Mirror-image polydactyly of hands and feet (Laurin-Sandrow syndrome) Cenani-Lenz syndactyly AR 212780 11p11.2 LRP4 low density lipoprotein receptor-related protein 4 Cenani-Lenz like syndactyly SP (AD?) 15q13-q14 GREM1, FMN1 Gremlin 1, Formin 1 Oligosyndactyly, radio-ulnar synostosis, hearing loss and renal defects syndrome SP (AR?) 15q13-q14 FMN1 Formin 1 Syndactyly, Malik-Percin type AD 609432 17p13.3
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 39: 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
Page 67 and 68: lock1 patient arrival to hospital b
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
Page 79 and 80: ging of enchondromas, localized and
Page 81 and 82: Obr. 1C. RTG snímek ukazuje dvouú
Page 83 and 84: Obr. 1f. rigidní equinovarosní ko
Page 85 and 86: Obr. 1CH. RTG snímek P femuru v bo
Page 87 and 88: Obr. 2B. RTG dobrá osifikace kostn
Page 89 and 90: 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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