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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.

Type

Journal article

Journal

Clin Dysmorphol

Publication Date

07/2005

Volume

14

Pages

117 - 121

Keywords

Abnormalities, Multiple, Bile Ducts, Extrahepatic, Biliary Atresia, Diagnosis, Differential, Ductus Arteriosus, Patent, Fingers, Humans, Infant, Limb Deformities, Congenital, Male, Seizures, Syndrome, Toes