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

Author

Higley MJ, Walkiewicz TW, Miller JH, Curran JG, and Towbin RB

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
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.

Published
2011
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