A case with bilateral radio-ulnar synostosis |
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Authors: | Koç A Kaymak A O Karaer K Ergün M A Aksu T Perçin E F |
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Institution: | Department of Medical Genetics, Faculty of Medicine, Gazi University, Turkey. |
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Abstract: | Congenital radio-ulnar synostosis may be an isolated abnormality or additional abnormalities may accompany it. It may also be found as a part of well-known syndromes. We present a case with bilateral congenital radio-ulnar synostosis, speech delay, dimple on shoulders, café au lait spot and characteristic facial appearance. The proband has a brother with similar clinical findings with the exception of congenital radio-ulnar synostosis. We discuss the possible relationship between our case and previously described syndromes with congenital radio-ulnar synostosis, and distinct phenotypic features of the presented case. |
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