RARE DISEASES  PREVENTION, DIAGNOSIS, TREATMENT

General Guidelines for Posters:

  • Language: English
  • Dimensions: The dimension of posters should be 70 cm wide and 120 cm tall.
  • Venue: Posters should be displayed between 9:00-12:30h on 1 March 2008 at the Venue of the Conference
    and removed after 13:30h on 2 March 2008.
    Poster numbers will be put at the top on each poster board, corresponding to the list bellow.
  • Full text: Authors must bring and present during Registration the final full text of their poster in electronic
    and printed versions. Do not submit text in PowerPoint format!
    Only presented posters will be published on CD ROM in full text after the conference.

LIST OF APPROVED POSTERS

Poster No. 1

  • Title: New perspectives in Romania concerning the child with idiophatic mental retardation
  • Author(s): Puiu M, Rusu C, Neagu E, Skrypnyk C, Bica V, Csep K, Cret K, Ivanov I, Barbarii L, Tarniceru A
  • Country: Romania

Poster No. 2

  • Title: Myocardial infarction in a case of Seckel syndrome - clinical, non-invasive and invasive data
  • Author(s): Coman I.M, Ghionea M, Calin C, Negoita A, Barbu E.C, Bizgan B.A, Mustata M, Matei A, Asavei R.E
  • Country: Romania

Poster No. 3

  • Title: McKusick-Kaufman syndrome - clinical profile and follow-up
  • Author(s): Vasilica P, Gabriela M, Florina N, Elena N
  • Country: Romania

Poster No. 4

  • Title: MPS VI enzyme replacement therapy in two Croatian patients
  • Author(s): Petkovic G, Ingeborg Barisic
  • Country: Croatia

Poster No. 5

  • Title: Behavioural phenotyping and assessment of non-pharmacological interventions in a transgenic mouse model of Rett syndrome
  • Author(s): Ricceri L, De Filippis B, Laviola G
  • Country: Italy

Poster No. 6

  • Title: Analysis, Treatment And Prevention Of Cystine Urolithiasis
  • Author(s): Nenov D, Maria Ivanova M
  • Country: Bulgaria

Poster No. 7

  • Title: Urinary hydrocolpos caused by a persistent urogenital sinus
  • Author(s): Tashev P, Stefanova P, Moshekov E, Tashev V
  • Country: Bulgaria

Poster No. 8

  • Title: Oral and cranio-facial manifestations in two rare genetic disorders: Kabuki make-up and Rubinstein-Taybi syndrome
  • Author(s): Meszaros N, Belengeanu D, Capitanescu C
  • Country: Romania

Poster No. 9

  • Title: Clinical case of Prader-Willi syndrome
  • Author(s): Pavlova M, Botushanov N, Orbetzova M, Troev D
  • Country: Bulgaria

Poster No. 10

  • Title: Brain subcortical heterotopia - case report and literature review
  • Author(s): Yordanova R, Ivanov I, Semova R, Panova M, Arizankoski D
  • Country: Bulgaria

Poster No. 11

  • Title: Acute Plastic Bronchitis
  • Author(s): Arizankoska B, Trajcova A, Kocmanova-Petreska S
  • Country: Macedonia

Poster No. 12

  • Title: Darier disease
  • Author(s): Manolova V, Chudomirova K, Abadjieva Ts
  • Country: Bulgaria

Poster No. 13

  • Title: Hypomelanosis Ito: case description and literature review
  • Author(s): Pacheva I, Ivanov I, Geneva I
  • Country: Bulgaria

Poster No. 14

  • Title: Pemphigus benignus chronicus familiaris (Morbus Hailey-Hailey). A case report
  • Author(s): Dobrev H, Gyurova M, Abadjieva Ts
  • Country: Bulgaria

Poster No. 15

  • Title: Congenital myasthenic syndrome in two siblings with two mutations in epsilon subunit gene of the acetylcholine receptor
  • Author(s): Dimova P, Mihaylova V, Bojinova V, Assenova A, Jordanova A, Muller J.S, Abicht A, Lochmuller H
  • Country: Bulgaria, Germany, Belgium, UK

Poster No. 16

  • Title: Some Data from Cystic Fibrosis Center - Sofia
  • Author(s): Galeva I, Yankova M
  • Country: Bulgaria

Poster No. 17

  • Title: Complete corpus callosum agenesis in a Trisomy 13 case
  • Author(s): Icma D, Belengeanu V, Patrascu C, Stoian M, Olariu G, Grigoras D
  • Country: Romania

Poster No. 18

  • Title: Posterior fossa angiomateous malformation as a cause of spontaneous SAH: Case report study
  • Author(s): Hassoun H
  • Country: Iraq

Poster No. 19

  • Title: Clinical difficulties in genetic diagnosis of mixed gonadal dysgenesis
  • Author(s): Gorduza E.V, Braha E, Volosciuc M, Butnariu L, Gramescu M, Covic M
  • Country: Romania

Poster No. 20

  • Title: First Romanian case of Robinow Syndrome, dominant autosomal form
  • Author(s): Andreescu N, Belengeanu V, Boia M, Stoian M
  • Country: Romania

Poster No. 21

  • Title: Optimizing clinical diagnosis for some genetic syndromes with evocative lip and philtrum anomalies. Iasi medical genetics center's experience.
  • Author(s): Braha E, Volosciuc M, Gorduza V, Rusu C, Butnariu L, Panzaru M, Covic M
  • Country: Romania

Poster No. 22

  • Title: Familial nonsyndromic oligodontia - a case report
  • Author(s): Tomov G, Stoeva R
  • Country: Bulgaria

Poster No. 23

  • Title: Clinical study of two cases with Kabuki make - up syndrome
  • Author(s): Babameto-Laku A, Mokin V, Grimci L
  • Country: Albania

Poster No. 24

  • Title: Prognosis of myoclonic-astatic epilepsy (Doose syndrome)
  • Author(s): Angelova K, Pencheva G, Dimova P, Bojinova V
  • Country: Bulgaria

Poster No. 25

  • Title: Diagnostic, differential diagnostic and therapeutic approach in severe myoclonic epilepsy in infancy (SMEI, Dravet syndrome)
  • Author(s): Pencheva G, Angelova K, Bojinova V, Dimova P
  • Country: Bulgaria

Poster No. 26

  • Title: Noonan syndrome - case report
  • Author(s): V. Gadancheva, V. Stoyanov, L. Angelova
  • Country: Bulgaria

Poster No. 27

  • Title: A deficit of ATP-ase subunit 8 : with contribution for two new cases
  • Author(s): Radeva B, Stancheva M, Naumova E, Mihailova S
  • Country: Bulgaria

Poster No. 28

  • Title: Goodpasture's syndrome (GPS) with intraalveolar haemorrhage (IAH) and anti-GBM-antibody positive rapidly progressive glomerulonephritis (RPGN) (case report)
  • Author(s): Milovanceva-Popovska M, Grcevska L, Dzikova S, Ristovska V, Sikole A
  • Country: Macedonia

Poster No. 29

  • Title: Congenital muscular dystrophy with cerebral white matter involvement: probable merosin deficiency in two children
  • Author(s): Dimova P, Bojinova V
  • Country: Bulgaria

Poster No. 30

  • Title: Genetic and clinical evaluation of b-thallasemia in north-eastern Bulgaria
  • Author(s): Konstantinova D, Valcheva E, Jordanova A, Gadancheva V, Angelova L, Kaleva V
  • Country: Bulgaria

Poster No. 31

  • Title: Klippel Trenaunay Weber Syndrome (KTWS) - Case Report
  • Author(s): Butnariu L.I, Gorduza E.V, Caba L, Panzaru M, Braha E
  • Country: Romania

Poster No. 32

  • Title: De Morsier syndrome: case reporte
  • Author(s): Farcas S, Popa C, Andreescu N, Belengeanu A, Boia M
  • Country: Romania

Poster No. 33

  • Title: Myasthenia and myastenic syndrome in childhood- clinical peculiarities and prognosis
  • Author(s): Assenova A
  • Country: Bulgaria

Poster No. 34

  • Title: Moya-moya disease: a case with multiple transient ischemic attacks and ischemic stroke during cerebral angiography
  • Author(s): Bojinova V, Dimova P, Tomov V
  • Country: Bulgaria

Poster No. 35

  • Title: Fulminant hepatic failure as first presentation of Wilson disease (case report)
  • Author(s): Georgieva M, Konstantinova-Kanazireva D, Jeleva M, Christov I, Varbanova B, Krasnaliev I, Kulova
  • Country: Bulgaria

Poster No. 36

  • Title: The Williams Syndrome Association of Romania - AWSR
  • Author(s): Lazar C
  • Country: Romania

Poster No. 37

  • Title: Cystic Fibrosis Associated with Celiac Disease - case report
  • Author(s): Moraru D, Trandafir L.M, Cirdei E, Trandafirescu M, Anton D, Carmen O, Bozomitu L, Butnariu L, Braha E
  • Country: Romania

Poster No. 38

  • Title: Lowe syndrome - case report
  • Author(s): Cirdei E, Volosciuc M, Trandafir L.M, Georgescu M, Moraru D
  • Country: Romania

Poster No. 39

  • Title: Three unrelated cases with cryptic unbalanced subtelomere translocations
  • Author(s): Stoeva R, Kirchhoff M, Ivanov I, Ganchevska P, Popova I, Stoev I, Thoelen R, Rose H, Vermeesch J, Fryns J-P, Stefanova M
  • Country: Bulgaria, Denmark, Belgium

Poster No. 40

  • Title: Campomelic dysplasia: a case report
  • Author(s): Stoev I, Grozdanova L, Krastev T, Linev A, Krasteva M, Stoeva R, Stefanova M
  • Country: Bulgaria

Poster No. 41

  • Title: Etiopathogenesis, chemical composition and prevalence of cystine lithiasis
  • Author(s): Georgiev K, Stanoeva K, Georgiev I, Ivanova M
  • Country: Bulgaria

Poster No. 42

  • Title: Primary biliary cirrhosis - social-demographic and serological characteristics in Plovdiv region
  • Author(s): E. Beleva, S. Fransazov , M. Draganov, N. Krastev, M. Murdjeva
  • Country: Bulgaria

Poster No. 43

  • Title: Hunter disease: case presentation of two affected brothers
  • Author(s): Belengeanu V, Stoian M , Andreescu N, Farcas S, Popa C
  • Country: Romania

Poster No. 44

  • Title: Seathere Chotzen syndrome: a familial case report
  • Author(s): Stoian M, Belengeanu V, Andreescu N, Popa C, Belenganu A
  • Country: Romania

Poster No. 45

  • Title: Familial phenotype of Bettex-Graf syndrome. Report of two cases
  • Author(s): Belengeanu D, Noemi M
  • Country: Romania

Poster No. 46

  • Title: Phenylketonuria - case report
  • Author(s): Angelkova N, Sukarova E, Sabolic Avramovska V, Lekovska O, Duma F, Kuturec M
  • Country: Macedonia

Poster No. 47

  • Title: Retrolental fibroplasia - a rare cause of visual
  • Author(s): Marcovici T, Sabau I, Simedrea I, Puiu M, Gamaniuc E, Mihaescu M, Lesovici P, Lesovici M, Filip E
  • Country: Romania

Poster No. 48

  • Title: Oral findings in 14-years old girl with Crie du Chat syndrome
  • Author(s): Ilieva E, Beltcheva A
  • Country: Bulgaria

Poster No. 49

  • Title: Experimental studies on the litholytic effect of non-ionogenic surfactant in Cystine lithiasis
  • Author(s): Stanoeva K, Georgiev K, Georgiev G, Ivanova M
  • Country: Bulgaria

Poster No. 50

  • Title: The 5p- syndrome. A Case description and literature review
  • Author(s): Gug C, Tunescu
  • Country: Romania

Poster No. 51

  • Title: Osteogenesis imperfecta- Molecular pathology and molecular genetics of the diseases
  • Author(s): Nikolov P, Petkova N
  • Country: Bulgaria

Poster No. 52

  • Title: Implementation of new molecular methods for genetic/epigenetic investition in PWS/AS
  • Author(s): Puiu M, Cucu N, Anton G
  • Country: Romania

Poster No. 53

  • Title:Medico-social problems of patients with cystic fibrosis in Bulgaria
  • Author(s): Cherneva K
  • Country: Bulgaria

Poster No. 54

  • Title:Coincidance of gastrooesophageal reflux disease and neuromotor developmental retardation - case report
  • Author(s): Canan Mutlu, lknur Metin, Adnan Gorgulu
  • Country: Turkey

 

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