The spectrum of ocular features in the Williams-Beuren syndrome

Clinical Genetics

Volumn 49, Issue 1, 1996, Pages 28-31

  Winter, M ^a,c   Pankau, R ^a   Amm, Marita ^a   Gosch, Angela ^a   Wessel, A ^b  

^a UNIVERSITY OF KIEL   (Germany)

^b UNIVERSITY OF GÖTTINGEN   (Germany)

^c UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

Author keywords

Iris; Strabismus; Williams Beuren syndrome

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CATARACT; CLINICAL FEATURE; CONGENITAL BLOOD VESSEL MALFORMATION; CONVERGENT STRABISMUS; EYE COLOR; EYE MALFORMATION; FEMALE; HUMAN; MAJOR CLINICAL STUDY; MALE; OPHTHALMOSCOPY; PRIORITY JOURNAL; PTOSIS; RETINA BLOOD VESSEL; RIEGER SYNDROME; STRABISMUS; WILLIAMS BEUREN SYNDROME;

EID: 0029965910     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1996.tb04320.x     Document Type: Article

References (20)

1. Balacco-Gabrieli C, Lorusso VV, La Torre M. Rieger's and Williams syndrome. Ophthalmic Paediatr Genet 1985: 6: 149-153.
2. Beuren AJ, Apitz J, Harmjanz D. Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation 1962: 26: 1235-1240.
3. Culler FL, Jones KL, Deftos LJ. Impaired calcitonin secretion in patients with Williams syndrome. J Pediatr 1985: 107: 720-729.
4. Daniels SR, Loggie JMH, Schwartz DC, Strife JL, Kaplan S. Systemic hypertension secondary to peripheral vascular anomalies in patients with Williams syndrome. J Pediatr 1985: 106: 249-251.
5. deDecker W. Heterotropie. In: Kaufmann H, ed. Strabismus. Stuttgart: Enke Verlag 1986: 141-199.
6. Diem K, Lentner C. Wissenschaftliche Tabellen, 7th edn. Stuttgart: Georg Thieme Verlag, 1975.
7. Dilts CV, Morris CA, Leonard CO. Hypothesis for development of behavioral phenotype in Williams syndrome. Am J Med Genet Suppl 1990: 6: 126-131.
8. Greenberg F, Lewis RA. The Williams syndrome: spectrum and significance of ocular features. Ophthalmology 1988: 95: 1608-1612.
9. Holmstrom G, Almond G, Temple K, Taylor D, Baraitser M. The iris in Williams syndrome. Arch Dis Child 1990: 65: 987-989.
10. Horan JM, et al. Report of the second task force on blood pressure control in children - 1987. Pediatrics 1987: 79: 1-25.
11. Jensen OA, Warburg M, Dupont A. Ocular pathology in the elfin face syndrome (the Fanconi-Schlesinger type of idiopathic hypercalcaemia of infancy) - histochemical and ultrastructural study of a case. Ophthalmologica 1976: 172: 434-444.
12. Jones KL, Smith DW. The Williams elfin facies syndrome. J Pediatr 1975: 86: 718-723.
13. Kruse K, Pankau R, Gosch A, Wohlfahrt K. Calcium metabolism in Williams-Beuren syndrome. J Pediatr 1992: 121: 902-907.
14. Lopez-Rangel E, Maurice M, McGillivray B, Friedman JM. Williams syndrome in adults. Am J Med Genet 1992: 44: 720-729.
15. Martin NDT, Snodgrass GJAI, Cohen RD. Idiopathic infantile hypercalcaemia - a continuing enigma. Arch Dis Child 1984: 59: 605-613.
16. Martin NDT, Snodgrass GJAI, Cohen RD, Porteous CE, Coldwell RD, Trafford DJH, Makin HLJ. Vitamin D metabolites in idiopathic infantile hypercalcaemia. Arch Dis Child 1985: 60: 1140-1143.
17. Ott E, Stengel-Rutkowski S. Das Williams-Beuren Syndrom. Pädiatr Praxis 1985/86: 32: 295-305.
18. Pagon RA, Bennett FC, LaVeck B, Stewart KB, Johnson J. Williams syndrome: features in late childhood and adolescence. Pediatrics 1987: 80: 85-91.
19. Pankau R, Partsch CJ, Gosch A, Oppermann HC, Wessel A. Statural growth in Williams-Beuren syndrome. Eur J Pediatr 1992: 151: 751-755.
20. Williams JCP, Barrat-Boyes BG, Lowe JB. Supravalvular aortic stenosis. Circulation 1961: 24: 1311-1318.