Septo-optic dysplasia and amniotic bands: further evidence for a vascular pathogenesis.
Septo-optic dysplasia (SOD) is a heterogeneous disorder. While most cases represent an isolated defect, SOD has also been seen in association with mutations in single genes, as a part of multiple congenital anomaly syndromes and with exposure to various teratogens. We report a boy with features of SOD who also has limb defects suggestive of amniotic bands. This case, in addition to others in the literature, provides evidence for a vascular pathogenesis of SOD in some individuals. This hypothesis is also supported by the sporadic occurrence of SOD and its association with decreased maternal age, vascular teratogens, and neuropathologic findings suggestive of vascular insults.
Stevens
Cathy A
CA
Department of Pediatrics, Chattanooga Unit, University of Tennessee College of Medicine and T. C. Thompson Children's Hospital, Chattanooga, Tennessee 37403, USA. stevenca@erlanger.org
Dobyns
William B
WB
D000015:Abnormalities, Multiple / Q000473:pathology*; D000652:Amniotic Band Syndrome / Q000150:complications / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012196:Review Literature as Topic; D025962:Septo-Optic Dysplasia / Q000150:complications / Q000473:pathology*; D014652:Vascular Diseases / Q000209:etiology