Septo‐optic dysplasia with digital anomalies—a recurrent pattern syndrome

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 t...

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Veröffentlicht in:American journal of medical genetics. Part A 2004-11, Vol.131A (1), p.82-85
Hauptverfasser: Harrison, Iain M., Brosnahan, Donal, Phelan, Ethna, Fitzgerald, Ray J., Reardon, William
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Sprache:eng
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Zusammenfassung: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. © 2004 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.30309