Spectrum of Clinical Manifestations in Turkish Patients with Williams-Beuren Syndrome: A Monocentric Study

It should be kept in mind that endocrine abnormalities, musculoskeletal, neurologic and psychiatric manifestations are also common in patients with Williams-Beuren syndrome, necessitating a multidisciplinary approach.

📌 3 Maddede Bu Makale

🎯

Amaç & Hipotez:Aim: Williams-Beuren syndrome, which is characterized by dysmorphic facial features, cardiovascular findings, intellectual disability, endocrine abnormalities and a typical cognitive profile, is caused by a microdeletion in the 7q11.23 region.

📊

Temel Bulgular & Veri:Materials and Methods: We retrospectively collected data from 27 Turkish patients who had clinically and genetically confirmed Williams- Beuren syndrome.

💡

Sonuç & Katkı:It should be kept in mind that endocrine abnormalities, musculoskeletal, neurologic and psychiatric manifestations are also common in patients with Williams-Beuren syndrome, necessitating a multidisciplinary approach.

🔬Tür:Araştırma Makalesi

📍Kapsam:Genişletilmiş Akademik Örneklem

⚙️Değişkenler:Alan Parametreleri

Özet

Aim: Williams-Beuren syndrome, which is characterized by dysmorphic facial features, cardiovascular findings, intellectual disability, endocrine abnormalities and a typical cognitive profile, is caused by a microdeletion in the 7q11.23 region. In this study, we aimed to evaluate the dysmorphic and clinical manifestations of patients with Williams-Beuren syndrome. Materials and Methods: We retrospectively collected data from 27 Turkish patients who had clinically and genetically confirmed Williams- Beuren syndrome. Their multisystemic manifestations, demographic data and dysmorphic facial features were recorded. Results: All patients had the characteristic facial phenotype. The most frequent dysmorphic facial features were periorbital fullness, short nose, broad nasal tip and wide mouth. Aortic stenosis (59.2%) and pulmonary stenosis (37%) were the most common cardiac findings. Short stature (25.9%), idiopathic central precocious puberty (7.4%), hypothyroidism (congenital, non-congenital or subclinical) (40.7%) and hypercalcemia (3.7%) were the major endocrine manifestations in the patients. Genitourinary abnormalities were detected in 6 patients. All patients had some degree of intellectual disability; most of the patients (62.9%) had mild intellectual disability. Additionally, behavioral problems were frequently detected and the most common abnormality was overfriendliness (77.7%). Renal abnormalities (double collecting system, bladder diverticula and renal calculi) were also detected. Conclusion: Dysmorphic facial features, which have a crucial role in the diagnosis of Williams-Beuren syndrome, should be assessed in suspected patients with supravalvular aortic stenosis and concomitant intellectual disability in order to make an early diagnosis. It should be kept in mind that endocrine abnormalities, musculoskeletal, neurologic and psychiatric manifestations are also common in patients with Williams-Beuren syndrome, necessitating a multidisciplinary approach.

🔖

Bu Makaleye Atıf Yap

GÜRSOY, S., HAZAN, F., ZİHNİ, C., ACAR, S., YILMAZER, M. M., MEŞE, T., ÖZKAN, B. (2021). Spectrum of Clinical Manifestations in Turkish Patients with Williams-Beuren Syndrome: A Monocentric Study. The Journal of Pediatric Research, Cilt: 8 - Sayı: 3, 297–302. https://ajindex.com/articles/362730

📄 Tam Metin PDF Okuyucu

Yeni Sekmede Aç ↗

↗Yeni Sekme

📄

PDF görüntüleyici hazırlanıyor...

Kaynakça (17)

Ferrero G, Howald C, Micale, et al. An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient. Eur J Med Genet 2010; 18:33-8
Committee on Genetics. American Academy of Pediatrics: health care supervision for children with Williams syndrome. Pediatrics 2001; 107:1192-204
Morris CA. Williams Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al (eds). GeneReviews® Seattle (WA): University of Washington, Seattle; 1993-2020
Adams GN, Schmaier AH. The Williams-Beuren syndrome—a window into genetic variants leading to the development of cardiovascular disease. PLoS Genet 2012; 8:e1002479. doi: 10.1371/journal.pgen.1002479
Ramírez Velazco A, Domínguez Quezada MG. Atypical deletions in Williams–Beuren syndrome. Rev Med Inst Mex Seguro Soc 2017; 55:615-20
Hedtke T, Schräder CU, Heinz A, et al. A comprehensive map of human elastin cross-linking during elastogenesis. FEBS J 2019; 286:3594-610
Mulik VV, Temple KI, Howe DT. Two pregnancies in a woman with Williams syndrome. BJOG 2004; 111: 511-2
Morris CA, Braddock SR, COUNCIL ON GENETICS. Health care supervision for children with Williams syndrome. Pediatrics 2020; 145:e20193761
Collins RT. Cardiovascular disease in Williams syndrome. Circulation 2013; 127:2125-34
Bird LM, Billman GF, Lacro RV, et al. Sudden death in Williams syndrome: report of ten cases. J Pediatr 1996; 129:926-31
Pham PP, Moller JH, Hills C, Larson V, Pyles L. Cardiac catheterization and operative outcomes from a multicenter consortium for children with Williams syndrome. Pediatr Cardiol 2009; 30:9-14
Wessel A, Gravenhorst V, Buchhorn R, Gosch A, Partsch CJ, Pankau R. Risk of sudden death in the Williams-Beuren syndrome. Am J Med Genet A 2004; 127A:234-7
Bruno E, Rossi N, Thüer O, Córdoba R, Alday LE. Cardiovascular findings, and clinical course, in patients with Williams syndrome. Cardiol Young 2003; 13:532-6
Eronen M, Peippo M, Hiippala A, et al. Cardiovascular manifestations in 75 patients with Williams syndrome. J Med Genet 2002; 39:554-8
Scheiber D, Fekete G, Urban Z, et al. Echocardiographic findings in patients with Williams-Beuren syndrome. Wien Klin Wochenschr 2006; 118:538-42
Ramírez-Velazco A, Aguayo-Orozco TA, Figuera L, et al. Williams-Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH. J Genet 2019; 98:34
Borg I, Delhanty JDA, Baraitser M. Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic t