Roper Emma C, Hobson Emma E, Sprigg Alan, Dobbie Angus, Parker Michael J
Department of Clinical Genetics, Sheffield Children's Hospital, Western Bank, Sheffield, S10 2TH, UK Department of Clinical Genetics, St James University Hospital, Leeds, LS9 7TF, UK Department of Radiology, Sheffield Children's Hospital, Western Bank, Sheffield, S10 2TH, UK.
Clin Dysmorphol. 2005 Jul;14(3):117-121.
Brachydactyly is a relatively common congenital anomaly and can be associated with many other malformations. However, brachydactyly in association with biliary atresia is rare. We present a male child with strikingly symmetrical brachydactyly and nail hypoplasia, extrahepatic biliary atresia, patent ductus arteriosus, seizures, developmental delay and cataracts. This combination of features has not previously been described and we suggest that this case represents a new syndrome.
短指畸形是一种相对常见的先天性异常，可与许多其他畸形相关联。然而，短指畸形合并胆道闭锁的情况较为罕见。我们报告一名男童，患有明显对称的短指畸形和指甲发育不全、肝外胆道闭锁、动脉导管未闭、癫痫、发育迟缓及白内障。此前尚未有过这种特征组合的描述，我们认为该病例代表一种新的综合征。
