✦ LIBER ✦

A Japanese patient with Kabuki syndrome and unilateral perisylvian cortical dysplasia

✍ Scribed by Seiichiro Yoshioka; Tomoyuki Takano; Kumiko Matsuwake; Tatsuyuki Sokoda; Yoshihiro Takeuchi

Book ID: 113498890
Publisher: Elsevier Science
Year: 2011
Tongue: English
Weight: 251 KB
Volume: 33
Category: Article
ISSN: 0387-7604
DOI: 10.1016/j.braindev.2010.04.001

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Epilepsy and perisylvian polymicrogyria

Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome

✍ H W R; P E; S M Sisodiya 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 335 KB

Cochlear implantation in a patient with

Cochlear implantation in a patient with Perisylvian syndrome

✍ Wendy Smith; Patrick Axon 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 102 KB

Chorea associated with antiphospholipid

Chorea associated with antiphospholipid antibodies in a patient with Kabuki syndrome

✍ Pooja Gidwani; Eric Segal; Alan Shanske; Catherine Driscoll 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 119 KB 👁 2 views

Cerebellar and brainstem “atrophy” in a

Cerebellar and brainstem “atrophy” in a patient with Kabuki make-up syndrome

✍ Yano, Shoji; Matsuishi, Toyojiro; Yoshino, Makoto; Kato, Hirohisa; Kojima, Kazuy 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 2 views

Fig. 1. The patient at 8 years of age showing typical facial features of Kabuki make-up syndrome (A); a brain MRI study revealed cerebellar and brainstem atrophy (B-D).

A Japanese patient with the Dubowitz syn

A Japanese patient with the Dubowitz syndrome

✍ I. Kondo; K. Takeda; K. Kuwajima; T. Hirano 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 439 KB

A patient with ectodermal dysplasia, Jou

A patient with ectodermal dysplasia, Joubert's syndrome, and brain cysts

✍ R.Nuri Sener 📂 Article 📅 1998 🏛 Elsevier Science 🌐 English ⚖ 307 KB

A patient with ectodermal dysplasia, Joubert's syndrome, and cerebral cysts is reported. The combination of these findings suggested a disorder of the embryonic ectoderm, manifesting as a neurocutaneous syndrome.