Abstract
We report on a 14 months old Turkish girl with bilateral triphalangeal thumb and preaxial hexadaktyly on her left hand, bilaterally missing third toes and "Satyr-ears" as typical features of Townes-Brocks Syndrome. Besides reviewing all previous publications we discuss frequency and significance of all features--especially of anorectal malformations and the third missing toe.
Publication types
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Case Reports
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English Abstract
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Review
MeSH terms
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Abnormalities, Multiple / diagnosis
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Abnormalities, Multiple / genetics
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Female
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Fingers / abnormalities*
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Foot Deformities, Congenital / diagnosis
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Foot Deformities, Congenital / genetics*
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Hand Deformities, Congenital / diagnosis
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Hand Deformities, Congenital / genetics*
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Hearing Loss, Bilateral / diagnosis
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Hearing Loss, Bilateral / genetics*
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Heart Defects, Congenital / diagnosis
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Heart Defects, Congenital / genetics*
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Humans
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Infant
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Infant, Newborn
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Microcephaly / diagnosis
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Microcephaly / genetics*
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Microphthalmos / diagnosis
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Microphthalmos / genetics*
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Syndrome
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Toes / abnormalities*