Poster Presentations

Professional Posters

PROF 1. (Professional - Medical care)

Cardiovascular abnormalities as one of the main signs of Williams syndrome

Galagan V.(1), Zhovnir V.(2), Tsyhankova M.(1), Kurakova V.(1), Mykhailova D.(1), Cherevasho V.(1), Olifir O.(1), Zhurakhovska О.(1)

(1) National Children’s Specialized Hospital "OKHMATDYT" of Ministry of Health of Ukraine, Specialized Center of Medical Genetics, Kyiv, Ukraine; (2) National Children’s Specialized Hospital "OKHMATDYT" of Ministry of Health of Ukraine

PROF 2. (Professional - Epidemiology)

Non-syndromic forms of congenital heart defects in children: frequency, structure, prenatal diagnosis

Dudierina Y.(1), Govseev D.(1), Galagan V.(2), Kurkevych A.(3), Datsko O.(1), Olifir O.(2)

(1) Communal non-commercial enterprise “Kyiv city maternity hospital №5”, Kyiv, Ukraine; (2) National Children´s Specialized Hospital "Okhmatdyt", The Center of Medical Genetics; (3) Government Agency” Scientific Practical Medical Centre of Pediatric Cardiology and Cardiac Surgery”

PROF 3. (Professional - Medical care)

The impact of the COVID-19 pandemic on cleft care

Rossetti G.(1), Battista V.M.A.(1), Meazzini M.C.(1), Autelitano L.(1)

(1) Cleft lip and palate regional center, Operation Smile, S.Paolo Hospital, Milano

PROF 4. (Professional - Medical care)

The impact of Covid 19 pandemic on Cleft Patients travelling to the Milan Cleft Centre

Battista V.M.A.(1), Rossetti G.(1), Meazzini M.C.(1), Autelitano L.(1)

(1) San Paolo Hospital Milan, Italy, Maxillofacial Department, Cleft Unit, Opration Smile

PROF 5. (Professional - Medical care)

The essence of neuro-speech therapy care in working with a newborn with Down syndrome and their parents

Niemyska P.(1)

PROF 6. (Professional - Epidemiology)

Folic acid supplementation in the Congenital Anomalies population-based registry in a Spanish Region

Barrachina-Bonet L.(1), García-Villodre L.(1), Arribas-Díaz B.(1), Ruiz-Palacio A.(1), Páramo-Rodríguez L.(1), Guardiola-Vilarroig S.(1,2), Zurriaga O.(1,2), Cavero-Carbonell C.(1)

(1) Rare Diseases Joint Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region - Valencia University (FISABIO-UVEG), Valencia, Spain;(2) Public Health Regional Health Administration, Generalitat Valenciana, Valencia, Spain

PROF 7. (Professional - Epidemiology)

Congenital Anomalies and assisted conception in the population-based Registry from the Valencian Region (Spain)

García-Villodre L.(1), Barrachina-Bonet L.(1), Ruiz-Palacio A.(1), Arribas-Díaz B.(1), Páramo-Rodríguez L.(1), Guardiola-Vilarroig S.(1,2), Zurriaga O.(1,2), Cavero-Carbonell C.(1)

(1) Rare Diseases Joint Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region - Valencia University (FISABIO-UVEG), Valencia, Spain; (2) Public Health Regional Health administration, Generalitat Valenciana, Valencia, Spain

PROF 8. (Professional - Epidemiology)

Osteogenesis Imperfecta, in less than one-year olds, in the Valencian Region (Spain)

Arribas-Díaz B.(1), García-Villodre L.(1), Ruiz-Palacio A.(1), Barrachina-Bonet L.(1), Páramo-Rodríguez L.(1), Rico J.(1), Guardiola-Vilarroig S.(1,2), Zurriaga O.(1,2), Cavero-Carbonell C.(1)

(1) Rare Diseases Joint Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region - Valencia University (FISABIO-UVEG), Valencia, Spain; (2) Public Health Regional Health Administration, Generalitat Valenciana, Valencia, Spain

PROF 9. (Professional - Epidemiology)

Oesophageal Atresia in the Valencian Region (Spain): prevalence and sociodemographic study

Ruiz-Palacio A.(1), Agurto-Ramirez A.(1), García-Villodre L.(1), Arribas-Díaz B.(1), Barrachina-Bonet L.(1), Páramo-Rodríguez L.(1), Rico J.(1), Guardiola-Vilarroig S.(1,2), Zurriaga O.(1,2), Cavero-Carbonell C.(1)

(1) Rare Diseases Joint Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region - Valencia University (FISABIO-UVEG), Valencia, Spain; (2) Public Health Regional Health administration, Generalitat Valenciana, Valencia, Spain

PROF 10. (Professional - Genetics)

Variability of genetic defect in Polish patients with aniridia

Wawrocka A.(1), Kuchalska K.(2), Krawczyński M.R.(1,3)

(1) Department of Medical Genetics, Poznan University of Medical Sciences, Poland; (2) Student Scientific Society of Medical Genetics. Department of Medical Genetics, Poznan University of Medical Sciences, Poland; (3) Centers for Medical Genetics GENESIS, Poznań, Poland

PROF 11. (Professional - Genetics)

Cytogenetic tests in newborns hospitalised in a multidisciplinary reference hospital: indications and results - the experience of our center

Wicher D.(1), Kowalczyk M.(1), Skórka A. (1,2), Markowska K.(1), Urbańska K.(1), Zduńczyk K.(1), Chrzanowska K.(1), Pleskaczyńska A.(30, Wójcicka-Kowalczyk K.(3), Gradowska K.(3), Czech-Kowalska J.(3), Młynek M.(1)

(1) Department of Medical Genetics, Children’s Memorial Health Institute, Warsaw, Poland; (2) Department of Pediatrics, The Medical University of Warsaw, Warsaw, Poland; (3) Department of Neonatology and Neonatal Intensive Care, Children’s Memorial Health Institute, Warsaw, Poland

PROF 12. (Professional - Medical care)

Multidisciplinary medical care in patients with cranioectodermal dysplasia

Walczak-Sztulpa J.(1), Latos-Bieleńska A.(1)

(1) Department of Medical Genetics, Poznan University of Medical Sciences, Poland

PROF 13. (Professional - Genetics)

Different types of aberrations at 7q21.2-q21.3 locus in patients affected with isolated or syndromic form of split-hand/foot malformation - genotype-phenotype correlation

Sowińska-Seidler A.(1), Socha M.(1), Materna-Kiryluk A.(1,2), Jamsheer A.(1,2)

(1) Department of Medical Genetics, Poznan University of Medical Sciences, Poland; (2) Centers for Medical Genetics GENESIS, Poznan, Poland

PROF 14. (Professional - Genetics)

Targeted next-generation sequencing in the diagnosis of craniosynostoses

Bukowska-Olech E.(1), Adamek Z.(2,6), Dominiak P.(2,6), Glista F.(2,6), Larysz D.(3), Koczyk G.(5,6), Popiel D.(5), Materna-Kiryluk A.(1,5), Jamsheer A.(1,5)

(1) Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland; (2) Medical student, Poznan University of Medical Sciences, Poznan, Poland; (3) Department of Head and Neck Surgery for Children and Adolescents, University of Warmia and Mazury in Olsztyn, Olsztyn, Poland; (4) Centers for Medical Genetics GENESIS, Poznan, Poland; (5) Biometry and Bioinformatics Team, Institute of Plant Genetics, Polish Academy of Sciences, Poznan, Poland; (6) These authors have contributed equally to this work

PROF 16. (Professional - Genetics)

The results of multiple hereditary exostoses’ molecular screening

Szymczak A.(1), Bukowska-Olech E.(2), Piechota M.(3), Jamsheer A.(2,3)

(1) Medical student, Poznan University of Medical Sciences, Poland; (2) Centers for Medical Genetics GENESIS, Poznan, Poland; (3) Department of Medical Genetics, Poznan University of Medical Sciences, Poland; (4) These two authors contributed equally to this work

PROF 17. (Professional - Medical care)

The Evaluation of given parameters of sight organ, especially morfological changes of cornea in Williams syndrome patients

Musiorska M.(1), Trapkowski A.(2)

(1) Świat Oka, Warszawa, Poland; (2) NZOZ OKO, Gdynia, Poland

PROF 18. (Professional - Medical care)

Medical imaging of anatomical changes in Mayer-Rokitansky-Kuster-Hauser syndrome

Podkowa P.(1), Tuczyńska N.(1), Białek M.(1), Kucharska M.(1), Skoczylas M.M.(2), de Sousa N.M.(3), Rudnicki J.(4), Poncyljusz W.(2)

(1) Student Scientific Circle on Diagnostic Imaging of Rare Diseases, Department of Diagnostic Imaging and Interventional Radiology, Pomeranian Medical University in Szczecin; (2) Hospital Dr José Maria Grande, Unidade Local de Saúde do Norte Alentejano (ULSNA), Portalegre (Portugal)’ (3) Department of Diagnostic Imaging and Interventional Radiology, Pomeranian Medical University in Szczecin; (4) Department of Humanities in Medicine, Pomeranian Medical University in Szczecin

PROF 19. (Professional - Epidemiology)

Polish Registry of Congenital Malformations as a rare disease registry and a partner for the Polish Registry of Rare Diseases

Latos-Bieleńska A.(1), Wiśniewska K.(2), Materna-Kiryluk A.(1), Jamry-Dziurla A.(1), Jamsheer A.(1,3), Wiśniewska M.(1,3), Badura-Stronka M.(1,3), Glazar R.(1), Matuszewska K.(3), Wolnik-Brzozowska D.(3), Śmigiel R.(4), Wierzba J.(5), Haus O.(6), Chrzanowska K.(7), Obersztyn E.(8), Ślęzak R.(9), Posmyk R.(10), Wojciechowska K.(11), Jaszczuk I.(12), Krawczyński M.(1,3)

(1) Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland; (2) Epidemiology Unit, Department of Preventive Medicine Poznan, University of Medical Sciences, Poznan, Poland; (3) Centers for Medical Genetics GENESIS, Poznan, Poland; (4) Department of Paediatrics, Division of Propaedeutic of Paediatrics and Rare Disorders, Medical University, Wroclaw, Poland; (5) Department of Internal and Pediatric Nursing, Medical University of Gdansk, Poland; (6) Department of Clinical Genetics, Faculty of Medicine, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University, Toruń, Poland; (7) Department of Medical Genetics, The Children´s Memorial Health Institute, Warsaw, Poland; (8) Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland; (9) Department of Genetics, Wroclaw Medical University, Wroclaw, Poland; (10) Department of Clinical Genetics, Medical University of Bialystok, Bialystok, Poland; (11) Laboratory of Genetic Diagnostic, Medical University of Lublin, Lublin, Poland; (12) Department of Paediatric Haematology, Oncology and Transplantology, Children Clinical Hospital, II Dept. of Paediatrics, Medical University, Lublin, Poland

PROF 20. (Professional - Medical care)

Prenatal diagnosis and genetic counselling of Fraser syndrome: a case report

Olifir O.(1,3), Gryshuk Y.(1), Denysova O.(1), Galagan V.(2), Tsyhankova M.(2)

(1) National Children’s Specialized Hospital "OKHMATDYT" of Ministry of Health of Ukraine, Specialized Center of Medical Genetics, Division of Prenatal Diagnostic Kyiv, Ukraine; (2) National Children’s Specialized Hospital "OKHMATDYT" of Ministry of Health of Ukraine, Specialized Center of Medical Genetics, Clinical Diagnostics Division Kyiv, Ukraine 3Shupyk National Healthcare University of Ukraine

PROF 21. (Professional - Genetics)

Coexistence of de novo complex chromosomal rearrangement between chromosomes 3, 5 and 9 and interstitial deletion of chromosome 4 in a patient with congenital anomalies – case report

Repczyńska A.(1), Łazarczyk E.(1), Jułga K.(1), Sowińska-Seidler A.(3), Jamsheer A.(2,3), Latos-Bieleńska A.(2,3), Haus O.(1)

(1) Department of Clinical Genetics, Faculty of Medicine, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland; (2) Department of Medical Genetics, Poznan; University of Medical Sciences, Poznan, Poland (3) Center of Medical Genetics, Genesis SA, Poznan, Poland

PROF 22. (Professional - Epidemiology)

Risk factors for microcephaly with congenital CNS malformations based on Polish Registry of Congenital Malformations (PRCM) data

Jaroszewska-Swiatek B.(1), Wisniewska K.(2), Więckowska B.(3), Pawłowicz M.(4), Materna-Kiryluk A.(5)

(1) University of Warmia&Mazury, Regional Specialized Children´s Hospital in Olsztyn, Poland; (2) Epidemiology Unit, Department of Preventive Medicine Poznan, Poznan University of Medical Sciences, Poznan, Poland; (3) Department of Computer Science and Statistics, Poznan University of Medical Sciences, Poland; (4) Department of Pediatric Neurogenetics and Rare Diseases, University of Warmia&Mazury, Regional Specialized Children´s Hospital in Olsztyn, Poland; (5) Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poland

PROF 23. (Professional - Medical care)

Caregiver reported barriers in utilization of medical and rehabilitation services for children with congenital and developmental disorders resident in rural areas in Maharashtra, India

Radhakrishnan B.(1), Kar A.(1)

(1) Birth Defects and Childhood Disability Research Centre, Pune, India

PROF 24. (Professional - Medical care)

Neonatal and infant mortality associated with spina bifida: a systematic review

Y Ho P.S.(1)*, Quigley M.(1), Tatwavedi D.(2), Britto C.(3), Kurinczuk J.(1)

(1) National Perinatal Epidemiology Unit, Nuffield Department of Population Health, University of Oxford; (2) Radcliffe Department of Medicine, University of Oxford; (3) Oxford Vaccine Group, University of Oxford

This project has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No. 733001
The views presented here are those of the authors only, and the European Commission is not responsible for any use that may be made of the information presented here.
Projekt EUROlinkCAT otrzymał finansowanie z Unii Europejskiej "Horyzont 2020", Program badań i innowacji, umowa nr 733001.
Przedstawione tutaj poglądy są wyłącznie poglądami autorów, a Komisja Europejska nie ponosi odpowiedzialności za jakiekolwiek wykorzystanie przedstawionych tutaj informacji.

updated: 2022-04-06