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RT Journal Article
SR Electronic
T1 Bilateral Complete Labyrinthine Aplasia with Bilateral Internal Carotid Artery Aplasia, Developmental Delay, and Gaze Abnormalities: A Presumptive Case of a Rare <em>HOXA1</em> Mutation Syndrome
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP E23
OP E25
DO 10.3174/ajnr.A1969
VO 32
IS 2
A1 Higley, M.J.
A1 Walkiewicz, T.W.
A1 Miller, J.H.
A1 Curran, J.G.
A1 Towbin, R.B.
YR 2011
UL http://www.ajnr.org/content/32/2/E23.abstract
AB SUMMARY: The human HOXA1 mutation syndromes commonly present with abnormalities of the inner ear and ICAs. Previous cases describe varying degrees of hypoplasia or aplasia of the affected structures, often with asymmetric involvement. We present imaging findings documenting complete absence of the ICAs bilaterally with bilateral CLA, which, to our knowledge, has not been previously reported. ABDSAthabascan brainstem dysgenesis syndromeBSASBosley-Salih-Alorainy syndromeCLAcomplete labyrinthine aplasiaCNcranial nerveHOXhomeoboxICAinternal carotid arteryMRAMR angiography