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Septo-optic dysplasia with digital anomalies--a recurrent pattern syndrome
Iain M Harrison1, Donal Brosnahan, Ethna Phelan
1Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.
Abstract:
A distinct form of septo-optic dysplasia (SOD) comprises limb malformations in addition to the characteristic CNS and ocular abnormalities. To date, there have been 4 reports, citing 5 affected patients with this combined phenotype. We now add a further case and present neuroradiological images of the CNS findings in this condition. The striking consistency of the limb malformations and their overlap with the Streeter's band phenotype is emphasized.
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