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Septo-optic dysplasia with digital anomalies--a recurrent pattern syndrome.

Authors :
Harrison IM
Brosnahan D
Phelan E
Fitzgerald RJ
Reardon W
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