Bilateral complete labyrinthine aplasia with bilateral internal carotid artery aplasia, developmental delay, and gaze abnormalities: a presumptive case of a rare HOXA1 mutation syndrome.
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.
Higley
M J
MJ
Department of Radiology, Phoenix Children's Hospital, Arizona 85016, USA.
Walkiewicz
T W
TW
Miller
J H
JH
Curran
J G
JG
Towbin
R B
RB
D001933:Brain Stem / Q000002:abnormalities / Q000473:pathology; D002343:Carotid Artery, Internal / Q000002:abnormalities* / Q000473:pathology; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000235:genetics* / Q000473:pathology; D007758:Ear, Inner / Q000002:abnormalities* / Q000473:pathology; D005260:Female; D006319:Hearing Loss, Sensorineural; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007198:Indians, North American; D018810:Magnetic Resonance Angiography; D008279:Magnetic Resonance Imaging; D009421:Nervous System Malformations / Q000235:genetics / Q000473:pathology; D015835:Ocular Motility Disorders / Q000235:genetics* / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics*; D000099261:Homeobox A1 Protein
D018398:Homeodomain Proteins; D014157:Transcription Factors; D000099261:Homeobox A1 Protein