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 |
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Hauptverfasser: | , , , , |
Format: | Artikel |
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. |
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ISSN: | 1552-4825 1552-4833 |
DOI: | 10.1002/ajmg.a.30309 |