We describe two unrelated patients with Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation). The typical presentation is the discovery of fixed dilated pupils in a hypotonic infant. The iris abnormality is specific and seems pathognomonic of Gillespie syndrome. It can be
β¦ LIBER β¦
Vater syndrome: Hypothesis and report of two further cases
β Scribed by Lloyd, David J. ;McKenzie, John ;Kaye, Henry H. ;Russell, George
- Book ID
- 112216705
- Publisher
- John Wiley and Sons
- Year
- 1977
- Tongue
- English
- Weight
- 383 KB
- Volume
- 15
- Category
- Article
- ISSN
- 0040-3709
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Gillespie syndrome: A report of two furt
β
Nelson, John; Flaherty, Maree; Grattan-Smith, Padraic
π
Article
π
1997
π
John Wiley and Sons
π
English
β 27 KB
π 2 views
Oculo-ectodermal syndrome: Report of two
β
Lees, Melissa; Taylor, David; Atherton, David; Reardon, William
π
Article
π
2000
π
John Wiley and Sons
π
English
β 28 KB
π 2 views
We describe the clinical findings in two previously unreported, unrelated cases with aplasia cutis congenita and epibulbar dermoids, similar to the cases reported by Toriello et al. [1993]. In addition, one patient had bladder exstrophy with epispadias. These cases provide further evidence for the i
CraneβHeise syndrome: Two further case r
β
Florence Petit; Louise Devisme; Annick Toutain; VΓ©ronique Houfflin-Debarge; Anne
π
Article
π
2011
π
Elsevier Science
π
English
β 530 KB
Kaufman oculocerebrofacial syndrome: rep
β
L. E. Figuera; D. Garcia-Cruz; M. L. Ramirez-DueΓ±as; V. Rivera-Rables; J. M. Can
π
Article
π
2008
π
John Wiley and Sons
π
English
β 530 KB
Further clinical and sensorial delineati
β
Minn, David ;Christmann, Dominique ;De Saint-Martin, Anne ;Alembik, Yves ;Eliot,
π
Article
π
2002
π
John Wiley and Sons
π
English
β 271 KB
π 2 views
Bannwarth syndrome: report of two cases
β
M. Balestrino; A. Schenone; G. L. Mancardi
π
Article
π
1983
π
Springer Milan
π
English
β 224 KB