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Septo-optic dysplasia with digital anomalies--a recurrent pattern syndrome.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2004 Nov 15; Vol. 131 (1), pp. 82-5. - Publication Year :
- 2004
-
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.<br /> ((c) 2004 Wiley-Liss, Inc.)
Details
- Language :
- English
- ISSN :
- 1552-4825
- Volume :
- 131
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 15368481
- Full Text :
- https://doi.org/10.1002/ajmg.a.30309