Oculoauriculovertebral spectrum: an updated critique.
A comprehensive review and critical analysis of oculoauriculovertebral spectrum are provided. Topics discussed include nosologic problems, epidemiology, etiology (chromosomal, monogenic, teratogenic), and pathogenesis (hematoma formation, other vascular mechanisms, overripeness ovopathy). Clinical manifestations are thoroughly reviewed, updated, and documented for craniofacial features, central nervous system characteristics (including the wide spectrum of CNS malformations that make up the so-called "expanded Goldenhar complex"), congenital heart defects, and various other anomalies (kidney, lung, gastrointestinal tract). A number of conditions are discussed that are commonly differentiated from oculoauriculovertebral spectrum but have overlapping relationships, in some instances, with frontonasal dysplasia, branchio-oto-renal (BOR) syndrome, Townes-Brocks syndrome, Wildervanck syndrome, DiGeorge sequence, and several associations (VATER, CHARGE, and MURCS).
Cohen
M M
MM
Department of Oral Biology, Faculty of Dentistry, Dalhousie University, Halifax, NS, Canada.
Rollnick
B R
BR
Kaye
C I
CI
D006053:Goldenhar Syndrome / Q000209:etiology / Q000473:pathology; D006801:Humans; D008342:Mandibulofacial Dysostosis / Q000209:etiology / Q000473:pathology; D009626:Terminology as Topic