A very rare congenital malformation of the digits with the absence of the middle phalanges (usually of digits two to five), nail dysplasia and duplicated terminal phalanx of the thumb. Has been described in patients from two unrelated families.

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brachydactilie | brachydactylie

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brachydactylia | brachydactyly

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syndrome de brachydactylie-hypertension artérielle

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Bilginturan syndrome

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syndrome d'ankylose des pouces-brachydactylie-déficience intellectuelle

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Syndrome with characteristics of intellectual deficit, mild dysmorphism, type A brachydactyly, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably

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Date index: 2024-01-26