1.
Am J Med Genet A
; 131(1): 82-5, 2004 Nov 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15368481
RESUMO
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.