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 the CNS findings in this condition. The striking consistency of the limb malformations and their overlap with the Streeter's band phenotype is emphasized.
Harrison
Iain M
IM
Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.
Brosnahan
Donal
D
Phelan
Ethna
E
Fitzgerald
Ray J
RJ
Reardon
William
W
D000015:Abnormalities, Multiple / Q000473:pathology*; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital / Q000473:pathology*; D008297:Male; D025962:Septo-Optic Dysplasia / Q000473:pathology*; D013577:Syndrome