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Bilateral complete labyrinthine aplasia with bilateral internal carotid artery aplasia, developmental delay, and gaze abnormalities: a presumptive case of a rare HOXA1 mutation syndrome.
- Source :
-
AJNR. American journal of neuroradiology [AJNR Am J Neuroradiol] 2011 Feb; Vol. 32 (2), pp. E23-5. Date of Electronic Publication: 2010 Jan 14. - Publication Year :
- 2011
-
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.
- Subjects :
- Brain Stem abnormalities
Brain Stem pathology
Carotid Artery, Internal pathology
Child, Preschool
Developmental Disabilities pathology
Ear, Inner pathology
Female
Hearing Loss, Sensorineural
Humans
Indians, North American
Magnetic Resonance Angiography
Magnetic Resonance Imaging
Nervous System Malformations genetics
Nervous System Malformations pathology
Ocular Motility Disorders pathology
Carotid Artery, Internal abnormalities
Developmental Disabilities genetics
Ear, Inner abnormalities
Homeodomain Proteins genetics
Ocular Motility Disorders genetics
Transcription Factors genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1936-959X
- Volume :
- 32
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- AJNR. American journal of neuroradiology
- Publication Type :
- Academic Journal
- Accession number :
- 20075099
- Full Text :
- https://doi.org/10.3174/ajnr.A1969