JOURNAL OF THE CZECH PEDIATRIC SOCIETY AND THE SLOVAK PEDIATRIC SOCIETY

Čes-slov Pediat 2022, 77(4):232-235 | DOI: 10.55095/CSPediatrie2022/038

Patient with Williams-Beuren syndrome in paediatrician's officeMeet the patient

Wanda Urbanová1, 2, Hana Kubíková1, Ivana Dubovská1, 3, Petr Chramosta1, 4, 5, Jana Pelánová1, 6, 7
1 Spolek pro Williamsův syndrom, z. s. - Willík
2 Oddělení ortodoncie a rozštěpových vad, Stomatologická klinika, 3. lékařská fakulta Univerzity Karlovy a FN Královské Vinohrady, Praha
3 Ortodontické oddělení, Klinika zubního lékařství, Univerzita Palackého a FN Olomouc
4 Stomatologická klinika, Lékařská fakulta Univerzity Karlovy v Plzni a FN Plzeň
5 Oddělení ústní, čelistní a obličejové chirurgie, Masarykova nemocnice, Ústí nad Labem
6 Ordinace PLDD - MUDr. Jana Pelánová
7 Oddělení neurofyziologie sluchu, Ústav experimentální medicíny, Akademie věd ČR

Williams-Beuren syndrome is a multisystemic disorder caused by a microdeletion of the long arm of chromosome 7. Characteristic features of this syndrome include distinctive facial dysmorphism, cardiovascular system anomalies, growth retardation, delayed psychomotoric development and mild to moderate mental deficiency. Early diagnosis is essential for targeted treatment. The care of a patient with Williams-Beuren syndrome requires regular check-ups performed by paediatrician together with other specialists.

Keywords: Williams-Beuren syndrome, microdeletion, chromosome 7, elfin face, supravalvular aortic stenosis

Published: August 25, 2022  Show citation

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Urbanová W, Kubíková H, Dubovská I, Chramosta P, Pelánová J. Patient with Williams-Beuren syndrome in paediatrician's office. Ces-slov Pediat. 2022;77(4):232-235. doi: 10.55095/CSPediatrie2022/038.
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    References

    1. Morris CA, Braddock SR; Council On Genetics Health Care. Supervision for Children with Williams Syndrome. Pediatrics 2020; 145(2): e20193761. Go to original source... Go to PubMed...
    2. Strømme P, Bjørnstad PG, Ramstad K. Prevalence estimation of Williams syndrome. J Child Neurol 2002; 17(4): 269-71. Go to original source... Go to PubMed...
    3. Neuschlová N, Kubíková H. Willík - spolek pro Williamsův syndrom. https://www.spolek-willik.cz
    4. Wessel A, Pankau R, Kececioglu D, et al. Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome. Am J Med Genet 1994; 52(3): 297-301. Go to original source... Go to PubMed...
    5. Huarte NM, García-Guereta L, Lapunzina P. Williams-Beuren syndrome: Usual face, unusual heart. Open J of Genet 2013; 3(1): 79-81. Go to original source...
    6. Nosková P. Anesteziologická problematika u dětí s Williamsovým syndromem. Anest Intenziv Med 2018; 29(3): 148-150.
    7. Collins RT 2nd, Aziz PF, Gleason MM, et al. Abnormalities of cardiac repolarization in Williams syndrome. Am J Cardiol 2010; 106(7): 1029-33. Go to original source... Go to PubMed...
    8. Williams syndrome foundation. Klinický management Williamsova syndromu - doporučené postupy. Praha: Spolek Willík 2017. Dostupné na: https://www.spolek-willik.cz/prakticke-informace/informace-pro-lekare/
    9. Pankau R, Partsch CJ, Neblung A, et al. Head circumference of children with Williams-Beuren syndrome. Am J Med Genet 1994; 52(3): 285-290. Go to original source... Go to PubMed...
    10. Sindhar S, Lugo M, Levin MD, et al. Hypercalcemia in patients with Williams-Beuren syndrome. J Pediatr 2016; 178: 254-260.e4. Go to original source... Go to PubMed...
    11. Levy-Shraga Y, Gothelf D, Pinchevski-Kadir S, et al. Endocrine manifestations in children with Williams-Beuren syndrome. Acta Paediatr 2018; 107(4): 678-684. Go to original source... Go to PubMed...
    12. Leyfer OT, Woodruff-Borden J, Klein-Tasman BP, et al. Prevalence of psychiatric disorders in 4 to 16-year-olds with Williams syndrome. Am J Med Genet B Neuropsychiatr Genet 2006; 141B(6): 615-22. Go to original source... Go to PubMed...
    13. Riby D, Hanley M, Rodgers J. Úzkost u Williamsova syndromu: Příručka pro podporu dospělých s Williamsovým syndromem. Český překlad. Paha: Spolek Willík 2020.
    14. Johnson LB, Comeau M, Clarke KD. Hyperacusis in Williams syndrome. J Otolaryngol 2001; 30(2): 9092. Go to original source... Go to PubMed...
    15. Chapman CA, du Plessis A, Pober BR. Neurologic findings in children and adults with Williams syndrome. J Child Neurol 1996; 11(1): 63-65. Go to original source... Go to PubMed...
    16. Patil PM, Patil SP. Williams-Beuren syndrome: a complete guide for oral healthcare. J Oral Med Oral Surg 2021, 27: 21. Go to original source...
    17. Winter M, Pankau R, Amm M, et al. The spectrum of ocular features in the Williams-Beuren syndrome. Clin Genet 1996; 49(1): 28-31. Go to original source... Go to PubMed...
    18. Pankau R, Partsch CJ, Winter M, et al. Incidence and spectrum of renal abnormalities in Williams-Beuren syndrome. Am J Med Genet 1996; 63(1): 301-304. Go to original source...
    19. O'Reilly MF, Lancioni GE. Treating food refusal in a child with Williams syndrome using the parent as therapist in the home setting. J Intellect Disabil Res 2001; 45(Pt 1): 41-46. Go to original source... Go to PubMed...
    20. Damasceno ML, Cristante AF, Marcon RM, Barros Filho TE. Prevalence of scoliosis in Williams-Beuren syndrome patients treated at a regional reference center. Clinics (Sao Paulo) 2014; 69(7): 452-456. Go to original source... Go to PubMed...
    21. Simşek-Kiper PO, Sahin Y, Arslan U, et al. Celiac disease in Williams-Beuren syndrome. Turk J Pediatr 2014; 56(2): 154-9.
    22. Merla G, Brunetti-Pierri N, Micale L, Fusco C. Copy number variants at Williams-Beuren syndrome 7q11.23 region. Hum Genet 2010; 128(1): 3-26. Go to original source... Go to PubMed...
    23. Del Campo M, Antonell A, Magano LF, et al. Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension. Am J Hum Genet 2006; 78(4): 533-542. Go to original source... Go to PubMed...
    24. Porter MA, Dobson-Stone C, Kwok JB, et al. A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome. PLoS One 2012; 7(10): e47457. Go to original source... Go to PubMed...
    25. Barak B, Zhang Z, Liu Y, et al. Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioral and myelin alterations rescuable by a remyelinating drug [published correction appears in Nat Neurosci 2019; 22(7): 1197]. Nat Neurosci 2019; 22(5): 700-708. Go to original source... Go to PubMed...

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