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Three sibs with microcephaly, clubfeet and agenesis of corpus callosum: A new genetic syndrome?

✍ Scribed by Vered Shkalim; Liat Ben-Sira; Dov Inbar; Walid Kaadan; Lina Basel-Vanagaite; Rachel Straussberg


Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
154 KB
Volume
155
Category
Article
ISSN
1552-4825

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## Abstract We describe two brothers with a unique pattern of malformations that includes coloboma (iris, optic nerve), high forehead, severe retrognathia, mental retardation, and agenesis of the corpus callosum (ACC). Both boys have low‐set cupped ears with sensorineural hearing loss, normal phall