TY - JOUR
T1 - Septo-Optic Dysplasia and Amniotic Bands
T2 - Further Evidence for a Vascular Pathogenesis
AU - Stevens, Cathy A.
AU - Dobyns, William B.
PY - 2004/2/15
Y1 - 2004/2/15
N2 - 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.
AB - 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.
KW - Amniotic bands
KW - Septo-optic dysplasia
KW - Vascular disruption
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U2 - 10.1002/ajmg.a.20417
DO - 10.1002/ajmg.a.20417
M3 - Article
C2 - 14755460
AN - SCOPUS:0842327236
SN - 1552-4825
VL - 125 A
SP - 12
EP - 16
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 1
ER -