PT  - JOURNAL ARTICLE
AU  - Higley, M.J.
AU  - Walkiewicz, T.W.
AU  - Miller, J.H.
AU  - Curran, J.G.
AU  - Towbin, R.B.
TI  - 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
AID  - 10.3174/ajnr.A1969
DP  - 2011 Feb 01
TA  - American Journal of Neuroradiology
PG  - E23--E25
VI  - 32
IP  - 2
4099  - http://www.ajnr.org/content/32/2/E23.short
4100  - http://www.ajnr.org/content/32/2/E23.full
SO  - Am. J. Neuroradiol.2011 Feb 01; 32
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