PHACES Syndrome—Report of Two Cases and Their Evolution Over Time
✍ Scribed by Fiona Browne; Caroline Rickard; Robert A. Smith; Calum Lyon
- Book ID
- 109090936
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 292 KB
- Volume
- 26
- Category
- Article
- ISSN
- 0736-8046
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
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
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