Abstract
The Yemenite deaf-blind hypopigmentation syndrome is a rare disorder characterized by severe early hearing loss, microcornea and colobomata, and cutaneous pigmentation abnormalities. A girl with similar skin symptoms and hearing loss, but no microcornea or colobomata is described and compared to other reported patients.
MeSH terms
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Child
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Deafness / complications*
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Deafness / genetics
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Eye Abnormalities / complications
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Eye Abnormalities / genetics*
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Female
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Humans
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Hypopigmentation / complications
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Hypopigmentation / genetics*
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Infant
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Infant, Newborn
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Learning Disabilities / complications
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Learning Disabilities / genetics
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Male
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Muscle Hypertonia / complications
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Muscle Hypertonia / genetics
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Pregnancy
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Syndrome