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Septo‐optic dysplasia with digital anomalies—a recurrent pattern syndrome

2004; Wiley; Volume: 131A; Issue: 1 Linguagem: Inglês

10.1002/ajmg.a.30309

1552-4833

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

Prenatal Screening and Diagnostics

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.