Brachydactyly with extrahepatic biliary atresia, patent ductus arteriosus and seizures--a new syndrome?
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.
Roper
Emma C
EC
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.
Hobson
Emma E
EE
Sprigg
Alan
A
Dobbie
Angus
A
Parker
Michael J
MJ
D000015:Abnormalities, Multiple / Q000473:pathology*; D017734:Bile Ducts, Extrahepatic / Q000473:pathology; D001656:Biliary Atresia / Q000473:pathology*; D003937:Diagnosis, Differential; D004374:Ductus Arteriosus, Patent / Q000473:pathology*; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital / Q000473:pathology*; D008297:Male; D012640:Seizures / Q000473:pathology*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities