W

 

Williams sendromu (Williams-Beuren sendromu)

Spontan/Kalıtsal - AD

Gelişme geriliği

Kranyumda gelişme duraklaması

Geniş alın

Kaşlar arasında kıllar

Yıldız biçiminde mavi iris

Strabismus

Basık burun, delikleri yukarı dönük

Kronik otitis media

İşitme sorunları

3 yaşına dek peri yüzü görünümü

Filtrum uzun

Yanaklar dolgun

Dudaklar kalın

Ağız açıklığı büyük

Ağız açık

Ağız asimetrik

Mandibula hipoplazisi

Maloklüzyon

Mikrodonti

Mine hipoplazisi

Sürekli dişlerde hipodonti

Ana arterlerde intima ve media kalınlaşması (elastin arteriopathy)

Supravalvüler aorta ve pulmoner damar stenozları

Kalpte septum defektleri

Mitral kapak prolapsusu

Aorta hipoplazisi/stenozu

Koroner aterosklerozu

Hipertansiyon

Ansızın gelişen kardiyovasküler kollaps

Ses kaba (bilateral vokal kord felci)

Endokrin patolojiler (hiperkalsemi, hiperkalsüri, hipotiroidi)

Diabetes mellitus

Sıska vücut yapısı

Üriner sistem anomalileri

Mikropenis

Herniler

Osteoporoz

Kifoskolyoz

Parmak anomalileri

Eklemler gevşek/kısıtlı

Hipotoni

Kognitif sorunlar

Psikiyatrik bulgular

Aktif ve mutlu görünüm (aşırı dostça davranış)

Zeka geriliği

Uyku sorunları

Anestezide komplikasyon riski

 

  • Lopez-Rangel E, Maurice M, McGillivray B, Friedman JM. Williams syndrome in adults. American Journal of Medical Genetics, 44: 720-729, 1992

  • Hertzberg J, Nakisbendi L, Needleman HL, Pober B. Williams syndrome--oral presentation of 45 cases. Pediatric Dentistry, 16:262–267, 1994

  • Wessel A, Pankau R, Kececioglu D, et al. Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome. American Journal of Medical Genetics, 52: 297-301, 1994 

  • Ounap K, Laidre P, Bartsch O, et al. Familial Williams-Beuren syndrome. American Journal of Medical Genetics, 80: 491-493, 1998

  • Committee on Genetics. American Academy of Pediatrics: Health care supervision for children with Williams syndrome. Pediatrics, 107:1192–1204, 2001

  • Axelsson S, Bjornland T, Kjaer I, et al. Dental characteristics in Williams syndrome: a clinical and radiographic evaluation. Acta Odontologica Scandinavica, 61:129–136, 2003

  • Bhattacharjee Y. Friendly faces and unusual minds. Science, 310(5749):802-804, 2005

  • Carrasco X, Castillo S, Aravena T, et al. Williams syndrome: pediatric, neurologic, and cognitive development. Pediatric Neurology, 32(3):166-172, 2005

  • 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. American Journal of Human Genetics 78(4):533-542, 2006

  • Gothelf D, Farber N, Raveh E, et al. Hyperacusis in Williams syndrome: characteristics and associated neuroaudiologic abnormalities. Neurology, 66: 390-395, 2006

  • Pober BR, Morris CA. Diagnosis and management of medical problems in adults with Williams-Beuren syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 145C(3):280-290, 2007

  • Schubert C. The genomic basis of the Williams-Beuren syndrome. Cellular and Molecular Life Sciences, 66(7):1178-1197, 2009

  • Kozel BA, Bayliss SJ, Berk DR, et al. Skin findings in Williams syndrome. American Journal of Medical Genetics, 164A: 2217-2225, 2014