Literature DB >> 15368481

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

Iain M Harrison1, Donal Brosnahan, Ethna Phelan, Ray J Fitzgerald, William Reardon.   

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. (c) 2004 Wiley-Liss, Inc.

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Year:  2004        PMID: 15368481     DOI: 10.1002/ajmg.a.30309

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  3 in total

1.  Epidemiology and risk factors of amniotic band syndrome, or ADAM sequence.

Authors:  Pietro Cignini; Claudio Giorlandino; Francesco Padula; Nella Dugo; Ester Valentina Cafà; Anna Spata
Journal:  J Prenat Med       Date:  2012-10

2.  Focal congenital hyperinsulinism in a patient with septo-optic dysplasia.

Authors:  Raja Padidela; Ritika R Kapoor; Yuva Moyo; Clare Gilbert; Sarah E Flanagan; Sian Ellard; Khalid Hussain
Journal:  Nat Rev Endocrinol       Date:  2010-09-14       Impact factor: 43.330

3.  The spectrum of brain malformations and disruptions in twins.

Authors:  Kaylee B Park; Teresa Chapman; Kimberly A Aldinger; Ghayda M Mirzaa; Jordan Zeiger; Anita Beck; Ian A Glass; Robert F Hevner; Anna C Jansen; Desiree A Marshall; Renske Oegema; Elena Parrini; Russell P Saneto; Cynthia J Curry; Judith G Hall; Renzo Guerrini; Richard J Leventer; William B Dobyns
Journal:  Am J Med Genet A       Date:  2020-11-18       Impact factor: 2.802

  3 in total

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