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Hydrocephalus with Hirschsprung disease: Severe end of X-linked hydrocephalus spectrum

✍ Scribed by Toshiki Takenouchi; Mie Nakazawa; Yonehiro Kanemura; Sachiko Shimozato; Mami Yamasaki; Takao Takahashi; Kenjiro Kosaki


Book ID
111995091
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
147 KB
Volume
158A
Category
Article
ISSN
1552-4825

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📜 SIMILAR VOLUMES


VACTERL with hydrocephalus: One end of t
✍ Porteous, M. E. M. ;Cross, I. ;Burn, J. 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 324 KB

## Abstract Two cases of Fanconi anemia presenting as hydrocephalus are discussed. Both infants had initially been considered to have features of VACTERL. Chromosomal breakage studies should be performed in all cases of VACTERL with hydrocephalus so that Fanconi anemia may be excluded. © 1992 Wiley

Genetic and clinical aspects of X-linked
✍ Sabine Weller; Jutta Gärtner 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 295 KB

L1 disease is a group of overlapping clinical phenotypes including X-linked hydrocephalus, MASA syndrome, spastic paraparesis type 1, and X-linked agenesis of corpus callosum. The patients are characterized by hydrocephalus, agenesis or hypoplasia of corpus callosum and corticospinal tracts, mental