title: Unilateral tibial agenesia with preaxial polysyndactyly and renal disorder in two patients: a new syndrome?
abstract: Left tibial agenesis, polysyndactyly with talipes equinovarus deformity and Grade IV vesicoureteral reflux of the right kidney are described in a 40-day-old male and an unrelated 1-month-old male, is also reported with right tibial agenesis, polysyndactyly with talipes equinovarus deformity and right kidney agenesis and left Grade V vesicoureteral reflux. No other pathology was recorded. Follow up at 1 year and 3 years, respectively, revealed normal motor and mental development. As this combination has been unpublished before, we believe that this a new syndrome.
authors.affiliation: Department of Paediatrics, Cerrahpaşa Faculty of Medicine, University of Istanbul, Turkey.
authors.forename: B
authors.initials: B
authors.lastname: Tüysüz
authors.forename: B D
authors.initials: BD
authors.lastname: Beker
authors.forename: T
authors.initials: T
authors.lastname: Centel
authors.forename: S
authors.initials: S
authors.lastname: Ungür
authors.forename: O
authors.initials: O
authors.lastname: Iter
mesh_terms: D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities*; D007674:Kidney Diseases / Q000175:diagnosis; D008297:Male; D011859:Radiography; D013576:Syndactyly / Q000175:diagnosis*; D013577:Syndrome; D013977:Tibia / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014718:Vesico-Ureteral Reflux / Q000175:diagnosis