Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2011 Feb;32(2):E23-5.
doi: 10.3174/ajnr.A1969. Epub 2010 Jan 14.

Bilateral complete labyrinthine aplasia with bilateral internal carotid artery aplasia, developmental delay, and gaze abnormalities: a presumptive case of a rare HOXA1 mutation syndrome

M J Higley  1 , T W Walkiewicz, J H Miller, J G Curran, R B Towbin
Affiliations
Case Reports

Bilateral complete labyrinthine aplasia with bilateral internal carotid artery aplasia, developmental delay, and gaze abnormalities: a presumptive case of a rare HOXA1 mutation syndrome

M J Higley et al. AJNR Am J Neuroradiol. 2011 Feb.

Abstract

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.

PubMed Disclaimer

Figures

Fig 1.
Fig 1.
Balanced fast-field echo axial T2 images show complete lack of inner ear structures and internal auditory canals bilaterally.
Fig 2.
Fig 2.
3D time-of-flight maximum-intensity-projection images in anteroposterior and lateral projections demonstrate complete absence of the bilateral ICAs (small arrows). The vertebrobasilar system is enlarged (arrowheads) and supplies flow to the bilateral anterior cerebral arteries and middle cerebral arteries via enlarged posterior communicating arteries (large arrow). The right middle meningeal artery is enlarged (open arrows).
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Tischfield MA, Bosley TM, Salih MA, et al. . Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Nature Genet 2005;37:1035–37 - PubMed
    1. Bosley TM, Salih MA, Alorainy IA, et al. . Clinical characterization of the HOXA1 syndrome BSAS variant. Neurology 2007;69:1245–53 - PMC - PubMed
    1. Bosley TM, Alorainy IA, Salih MA, et al. . The clinical spectrum of homozygous HOXA1 mutations. Am J Med Genet 2008;146A:1235–40 - PMC - PubMed
    1. Friedman BD, Tarby TJ, Holve S, et al. . Congenital horizontal gaze palsy, deafness, central hypoventilation, and developmental impairment: a brain stem syndrome prevalent in the Navajo population [abstract]. Am J Hum Genet 1996:59(Suppl):A37
    1. Holve S, Friedman B, Hoyme HE, et al. . Athabascan brainstem dysgenesis syndrome. Am J Med Genet 2003;120A:169–73 - PubMed

Publication types

MeSH terms

Supplementary concepts