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
## 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
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