|
rdf:type |
|
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lifeskim:mentions |
umls-concept:C0000768,
umls-concept:C0007276,
umls-concept:C0026882,
umls-concept:C0039082,
umls-concept:C0205197,
umls-concept:C0238767,
umls-concept:C0243065,
umls-concept:C0424605,
umls-concept:C0522498,
umls-concept:C1415653,
umls-concept:C1533148,
umls-concept:C2674502
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|
pubmed:issue |
2
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|
pubmed:dateCreated |
2011-2-18
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|
pubmed:abstractText |
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.
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pubmed:language |
eng
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pubmed:journal |
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|
pubmed:citationSubset |
IM
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pubmed:chemical |
|
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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|
pubmed:issn |
1936-959X
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pubmed:author |
|
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pubmed:issnType |
Electronic
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pubmed:volume |
32
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
E23-5
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pubmed:meshHeading |
pubmed-meshheading:20075099-Brain Stem,
pubmed-meshheading:20075099-Carotid Artery, Internal,
pubmed-meshheading:20075099-Child, Preschool,
pubmed-meshheading:20075099-Developmental Disabilities,
pubmed-meshheading:20075099-Ear, Inner,
pubmed-meshheading:20075099-Female,
pubmed-meshheading:20075099-Homeodomain Proteins,
pubmed-meshheading:20075099-Humans,
pubmed-meshheading:20075099-Indians, North American,
pubmed-meshheading:20075099-Magnetic Resonance Angiography,
pubmed-meshheading:20075099-Magnetic Resonance Imaging,
pubmed-meshheading:20075099-Nervous System Malformations,
pubmed-meshheading:20075099-Ocular Motility Disorders,
pubmed-meshheading:20075099-Transcription Factors
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|
pubmed:year |
2011
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|
pubmed:articleTitle |
Bilateral complete labyrinthine aplasia with bilateral internal carotid artery aplasia, developmental delay, and gaze abnormalities: a presumptive case of a rare HOXA1 mutation syndrome.
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pubmed:affiliation |
Department of Radiology, Phoenix Children's Hospital, Arizona 85016, USA.
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pubmed:publicationType |
Journal Article,
Case Reports
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