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Cerebellar hypoplasia and Cohen syndrome: A confirmed association

✍ Scribed by Alexander Waite; Mirja Somer; Mary O'Driscoll; Kathleen Millen; Forbes D. C. Manson; Kate E. Chandler

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
187 KB
Volume
152A
Category
Article
ISSN
1552-4825

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Colobomatous microphthalmia, microcephal
Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: Association or new syndrome?
✍ 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