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
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - pathology CNS Humans Infant Limb Deformities, Congenital - pathology limb malformations Male Septo-Optic Dysplasia - pathology septo‐optic dysplasia Syndrome
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container_title	American journal of medical genetics. Part A
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creator	Harrison, Iain M. Brosnahan, Donal Phelan, Ethna Fitzgerald, Ray J. Reardon, William
description	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.
doi_str_mv	10.1002/ajmg.a.30309
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subjects	Abnormalities, Multiple - pathology CNS Humans Infant Limb Deformities, Congenital - pathology limb malformations Male Septo-Optic Dysplasia - pathology septo‐optic dysplasia Syndrome
title	Septo‐optic dysplasia with digital anomalies—a recurrent pattern syndrome
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