Abstract
KBG syndrome is a rare genetic disorder, due to a mutation of ANKRD11, characterized by specific craniofacial dysmorphism, short stature and macrodontia of upper central incisors, intellectual disability and skeletal anomalies. We report a de novo mutation of ANKRD11 gene in a 7-years old girl, affected by KBG syndrome with bilateral conductive hearing loss. The aim of this article was to review the audiological findings of this syndrome.
Keywords:
ANKRD11; Hearing loss; KBG syndrome.
Copyright © 2017. Published by Elsevier B.V.
MeSH terms
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Abnormalities, Multiple / diagnosis*
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Abnormalities, Multiple / genetics
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Audiometry
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Bone Diseases, Developmental / complications
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Bone Diseases, Developmental / diagnosis*
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Bone Diseases, Developmental / genetics
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Child
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Facies
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Female
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Hearing Loss, Conductive / etiology*
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Humans
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Intellectual Disability / complications
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Intellectual Disability / diagnosis*
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Intellectual Disability / genetics
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Mutation
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Phenotype
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Repressor Proteins / genetics*
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Tooth Abnormalities / complications
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Tooth Abnormalities / diagnosis*
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Tooth Abnormalities / genetics
Substances
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ANKRD11 protein, human
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Repressor Proteins