PubMed:3180506 JSONTXT 8 Projects

A new family with the Townes-Brocks syndrome. We describe a new family with the Townes-Brocks syndrome, a dominantly inherited syndrome of anal, urorenal, ear and limb malformations. The proband shows the full spectrum of anomalies, including imperforate anus, prominent perineal raphe, rectoperineal fistula, triphalangeal thumb, preaxial hexadactyly, syndactyly, clinodactyly, preauricular protuberances, hypoplastic satyr ears, sensorineural hearing loss and urorenal anomalies. In contrast, the father shows only limb anomalies, sensorineural hearing loss and renal anomalies. Anorectal malformations, which are present in almost every patient with the Townes-Brocks syndrome, were absent in the father. This case report illustrates the intrafamilial variability of the Townes-Brocks syndrome. Consequently, careful examination of relatives of patients with this syndrome is necessary for the differential diagnosis with the sporadically inherited VA(C)TER(L) association.