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Rare Genetic Syndromes with Congenital Skull Aplasia

Published by Dr. Alexandros Blionas in Child’s Nervous System, the leading international journal in pediatric neurosurgery, this paper addresses extremely rare forms of congenital skull aplasia occurring in association with rare genetic syndromes. It sets out why these highly unusual cases demand a detailed understanding of the underlying pathophysiology if they are to be managed correctly.

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