✦ LIBER ✦

Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation

✍ Scribed by L. E. Figuera; D. Garcia-Cruz; M. L. Ramirez-Dueñas; V. Rivera-Rables; J. M. Cantù

Book ID: 115091403
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 530 KB
Volume: 44
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.1993.tb03855.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Further clinical and sensorial delineati

Further clinical and sensorial delineation of Schinzel-Giedion syndrome: Report of two cases

✍ Minn, David ;Christmann, Dominique ;De Saint-Martin, Anne ;Alembik, Yves ;Eliot, 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 271 KB 👁 2 views

The Pena-Shokeir syndrome: Report of fiv

The Pena-Shokeir syndrome: Report of five cases and further delineation of the syndrome

✍ Chen, H. ;Blumberg, B. ;Immken, L. ;Lachman, R. ;Rightmire, D. ;Fowler, M. ;Bach 📂 Article 📅 1983 🏛 John Wiley and Sons 🌐 English ⚖ 704 KB

Report of a case and further delineation

Report of a case and further delineation of the SHORT syndrome

✍ Toriello, Helga V. ;Wakefield, Susan ;Komar, Karl ;Higgins, James V. ;Waterman, 📂 Article 📅 1985 🏛 John Wiley and Sons 🌐 English ⚖ 213 KB 👁 3 views

Further delineation of the epidermal nev

Further delineation of the epidermal nevus syndrome: Two cases with new findings and literature review

✍ Grebe, Theresa A. ;Rimsza, Mary E. ;Richter, Sarah F. ;Hansen, Ronald C. ;Hoyme, 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 770 KB

Gillespie syndrome: A report of two furt

Gillespie syndrome: A report of two further cases

✍ Nelson, John; Flaherty, Maree; Grattan-Smith, Padraic 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 27 KB 👁 2 views

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

Oculo-ectodermal syndrome: Report of two

Oculo-ectodermal syndrome: Report of two further cases

✍ Lees, Melissa; Taylor, David; Atherton, David; Reardon, William 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 28 KB 👁 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