. "Koudela, Karel" . . "Achondroplazie byla poprv\u00E9 pops\u00E1na Parrotem v roce 1878. Jedn\u00E1 se o autozom\u00E1ln\u011B dominantn\u011B d\u011Bdi\u010Dnou skelet\u00E1ln\u00ED dysplazii. Zhruba v 90 % p\u0159\u00EDpad\u016F vznik\u00E1 novou mutac\u00ED v gamet\u011B fenotypov\u011B norm\u00E1ln\u00EDho rodi\u010De. V\u00FDskyt se uv\u00E1d\u00ED 1,3 a\u017E 1,5 na 100 000 \u017Eiv\u011B narozen\u00FDch d\u011Bt\u00ED. U achondroplazie je utlumena enchondr\u00E1ln\u00ED osifikace, kter\u00E1 je p\u0159\u00ED\u010Dinou zpomalen\u00ED r\u016Fstu kosti do d\u00E9lky a vede k obrazu disproporcion\u00E1ln\u00EDho nanismu. Jedinci jsou posti\u017Eeni mal\u00FDm vzr\u016Fstem, var\u00F3zn\u00EDm postaven\u00EDm kolenn\u00EDch kloub\u016F, thorakolumb\u00E1ln\u00ED kyf\u00F3zou, zv\u011Bt\u0161enou bedern\u00ED lord\u00F3zou a spin\u00E1ln\u00ED sten\u00F3zou p\u00E1te\u0159n\u00EDho kan\u00E1lu. C\u00EDlem pr\u00E1ce je prezentovat dosp\u011Blou \u017Eenu s achondroplazii, u kter\u00E9 byla provedena aloplastika kolenn\u00EDho kloubu tot\u00E1ln\u00ED endoprot\u00E9zou (TEP) pro sekund\u00E1rn\u00ED gonartr\u00F3zu p\u0159i neobvykle t\u011B\u017Ek\u00E9 valg\u00F3zn\u00ED deformit\u011B." . "Koudelov\u00E1, Jana" . . "5"^^ . "Achondroplazie byla poprv\u00E9 pops\u00E1na Parrotem v roce 1878. Jedn\u00E1 se o autozom\u00E1ln\u011B dominantn\u011B d\u011Bdi\u010Dnou skelet\u00E1ln\u00ED dysplazii. Zhruba v 90 % p\u0159\u00EDpad\u016F vznik\u00E1 novou mutac\u00ED v gamet\u011B fenotypov\u011B norm\u00E1ln\u00EDho rodi\u010De. V\u00FDskyt se uv\u00E1d\u00ED 1,3 a\u017E 1,5 na 100 000 \u017Eiv\u011B narozen\u00FDch d\u011Bt\u00ED. U achondroplazie je utlumena enchondr\u00E1ln\u00ED osifikace, kter\u00E1 je p\u0159\u00ED\u010Dinou zpomalen\u00ED r\u016Fstu kosti do d\u00E9lky a vede k obrazu disproporcion\u00E1ln\u00EDho nanismu. Jedinci jsou posti\u017Eeni mal\u00FDm vzr\u016Fstem, var\u00F3zn\u00EDm postaven\u00EDm kolenn\u00EDch kloub\u016F, thorakolumb\u00E1ln\u00ED kyf\u00F3zou, zv\u011Bt\u0161enou bedern\u00ED lord\u00F3zou a spin\u00E1ln\u00ED sten\u00F3zou p\u00E1te\u0159n\u00EDho kan\u00E1lu. C\u00EDlem pr\u00E1ce je prezentovat dosp\u011Blou \u017Eenu s achondroplazii, u kter\u00E9 byla provedena aloplastika kolenn\u00EDho kloubu tot\u00E1ln\u00ED endoprot\u00E9zou (TEP) pro sekund\u00E1rn\u00ED gonartr\u00F3zu p\u0159i neobvykle t\u011B\u017Ek\u00E9 valg\u00F3zn\u00ED deformit\u011B."@cs . "http://achot.cz/detail.php?stat=497" . . "000298771400014" . "3"^^ . "V" . "Total Knee Arthroplasty in Severe Valgus Deformity in a Patient with Achondroplasia"@en . . . "CZ - \u010Cesk\u00E1 republika" . "185249" . "Aloplastika kolenn\u00EDho kloubu tot\u00E1ln\u00ED endoprot\u00E9zou u t\u011B\u017Ek\u00E9 valg\u00F3zn\u00ED deformity p\u0159i achondroplazii"@cs . "RIV/00669806:_____/11:10105972!RIV12-MZ0-00669806" . . . "TKA; total knee arthroplasty; genua valga; achondroplasia"@en . . "6" . "3"^^ . . . . "RIV/00669806:_____/11:10105972" . "[A8F88498DC8A]" . . "0001-5415" . . . "Aloplastika kolenn\u00EDho kloubu tot\u00E1ln\u00ED endoprot\u00E9zou u t\u011B\u017Ek\u00E9 valg\u00F3zn\u00ED deformity p\u0159i achondroplazii" . . . "Aloplastika kolenn\u00EDho kloubu tot\u00E1ln\u00ED endoprot\u00E9zou u t\u011B\u017Ek\u00E9 valg\u00F3zn\u00ED deformity p\u0159i achondroplazii" . . "Aloplastika kolenn\u00EDho kloubu tot\u00E1ln\u00ED endoprot\u00E9zou u t\u011B\u017Ek\u00E9 valg\u00F3zn\u00ED deformity p\u0159i achondroplazii"@cs . "Acta Chirurgiae Orthopaedicae et Traumatologiae \u010Cechoslovaca" . "The authors present the results of total knee replacement in a 66-year-old woman with achondroplasia. The condition was diagnosed on the basis of clinical and radiographic findings; molecular genetic examination confirmed that the patient was heterozygous for the G1138A mutation responsible for substitution of an arginine for a glycine residue at position 380 (G380R). The patient presented with an unusual finding of severe fixed 20-degree valgus deformity, so far not published, which did not conform with the clinical features of achondroplasia. The authors presumed that the deformity had developed due to asymmetric growth of the distal femoral diaphysis resulting in a hypoplastic lateral femoral condyle and, consequently, valgus deformity. They put emphasis on thorough pre-operative radiography in order to define the size of components according to the templates, and on measurement of the valgus angle and femoral mechanical axis. They also drew attention to the problem of an extra-articular tibial alignment guide and recommended the use of its alternative or computer navigation. The surgery restored the mechanical axis, range of motion and stability of the knee, relieved pain and improved walking, which afforded a better quality of life for the patient."@en . "Total Knee Arthroplasty in Severe Valgus Deformity in a Patient with Achondroplasia"@en . "78" .