Saethre-Chotzen syndrome (ACS III) in four generations |
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| Authors: | Susanne C Niemann-Seyde Stefan W Eber Barbara Zoll |
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| Institution: | Institut für Humangenetik, Universit?t G?ttingen, FRG. |
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| Abstract: | The acrocephalosyndactylies (ACS) are a group of inherited disorders characterized by premature fusion of cranial sutures in association with abnormalities of the hands and feet. Based on their clinical features, different types of ACS have been described. We here report on a family with 9 individuals affected with ACS III (Saethre-Chotzen syndrome), 5 of them severely. Clinical features of the patients are presented with regard to differential diagnostic delineations. |
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| Keywords: | acrocephalosyndactyly Saethre-Chotzen syndrome |
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