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Clinical spectrum associated with cerebellar hypoplasia

✍ Scribed by Evangeline Wassmer; Paul Davies; William P Whitehouse; Stuart H Green


Book ID
117591204
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
85 KB
Volume
28
Category
Article
ISSN
0887-8994

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Colobomatous microphthalmia, microcephal
✍ Pavone, Piero; Parano, Enrico; Polizzi, Agata; Trifiletti, Rosario R. πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 17 KB πŸ‘ 2 views

We report on a 3.5-year-old girl with microcephaly, microphthalmia, coloboma of the iris, mild developmental delay, and other minor anomalies. Neuroimaging showed marked cerebellar and vermian hypoplasia. This condition has not been described previously and is discussed in the context of the "micro