. . . "RIV/00216208:11110/09:4136" . "Vesel\u00E1, Kate\u0159ina" . "P\u0159edstavujeme 2letou d\u00EDvku s kraniofaci\u00E1ln\u00ED dysmorfi\u00ED se strabizmem, vp\u00E1\u010Den\u00FDmi prsn\u00EDmi bradavkami, atypickou distribuc\u00ED tuku v podko\u017E\u00ED, svalovou hypotoni\u00ED a opozd\u011Bn\u00EDm psychomotorick\u00E9ho v\u00FDvoje. Laboratorn\u00ED vy\u0161et\u0159en\u00ED prok\u00E1zalo hepatopatii a koagulopatii. Na z\u00E1klad\u011B syst\u00E9mov\u00E9ho posti\u017Een\u00ED s typick\u00FDm klinick\u00FDm n\u00E1lezem jsme pom\u00FD\u0161leli na poruchu glykosylace protein\u016F - syndrom CDG. U d\u00EDvky byl diagnostikov\u00E1n nej\u010Dast\u011Bj\u0161\u00ED subtyp syndrom CDG Ia. CDG syndrom pat\u0159\u00ED do diferenci\u00E1ln\u00ED diagn\u00F3zy ka\u017Ed\u00E9ho neobjasn\u011Bn\u00E9ho multisyst\u00E9mov\u00E9ho onemocn\u011Bn\u00ED. Diagnostika je na na\u0161em pracovi\u0161ti dostupn\u00E1." . . . . "Magner, Martin" . . . "P\u0159edstavujeme 2letou d\u00EDvku s kraniofaci\u00E1ln\u00ED dysmorfi\u00ED se strabizmem, vp\u00E1\u010Den\u00FDmi prsn\u00EDmi bradavkami, atypickou distribuc\u00ED tuku v podko\u017E\u00ED, svalovou hypotoni\u00ED a opozd\u011Bn\u00EDm psychomotorick\u00E9ho v\u00FDvoje. Laboratorn\u00ED vy\u0161et\u0159en\u00ED prok\u00E1zalo hepatopatii a koagulopatii. Na z\u00E1klad\u011B syst\u00E9mov\u00E9ho posti\u017Een\u00ED s typick\u00FDm klinick\u00FDm n\u00E1lezem jsme pom\u00FD\u0161leli na poruchu glykosylace protein\u016F - syndrom CDG. U d\u00EDvky byl diagnostikov\u00E1n nej\u010Dast\u011Bj\u0161\u00ED subtyp syndrom CDG Ia. CDG syndrom pat\u0159\u00ED do diferenci\u00E1ln\u00ED diagn\u00F3zy ka\u017Ed\u00E9ho neobjasn\u011Bn\u00E9ho multisyst\u00E9mov\u00E9ho onemocn\u011Bn\u00ED. Diagnostika je na na\u0161em pracovi\u0161ti dostupn\u00E1."@cs . "disorders of glycosylation; CDG Ia syndrome; psychomotor delay"@en . "1213-0494" . "2"^^ . "5"^^ . "Kazuistika d\u00EDvky s d\u011Bdi\u010Dnou poruchou glykosylace" . "Kazuistika d\u00EDvky s d\u011Bdi\u010Dnou poruchou glykosylace" . . "Girl with congenital disorder of glycosylation - case report"@en . "5" . "Hans\u00EDkov\u00E1, Hana" . "[2CFCE1B43EBC]" . "Kazuistika d\u00EDvky s d\u011Bdi\u010Dnou poruchou glykosylace"@cs . "5"^^ . . "Girl with congenital disorder of glycosylation - case report"@en . "CZ - \u010Cesk\u00E1 republika" . "10" . . "Kazuistika d\u00EDvky s d\u011Bdi\u010Dnou poruchou glykosylace"@cs . . . "Honz\u00EDk, Tom\u00E1\u0161" . "321629" . "RIV/00216208:11110/09:4136!RIV10-MZ0-11110___" . . . . "2-year old girl with craniofacial dysmorphy, strabismus, inverted nipples, unusual fat pads, musle hypotonia and psychomotor delay is presented in this work. Laboratory analyses showed hepatopathy and koagulopathy. Systemic involvement with typical finding in physical examination supported the suspicion on congenital disorder of glycosylation - CDG syndrome. The most common type CDG Ia syndrome was diagnosted in our patient. CDG syndrome belongs to the differential diagnosis of each multisystemic disease. The diagnostics is available at our department."@en . . "Zeman, Ji\u0159\u00ED" . . "11110" . . "Z(MZ0VFN2005)" . "Pediatrie pro praxi" .