TOWNES-BROCKS SYNDROME - A CASE-REPORT

The Authors describe a case of sporadic Townes-Brocks syndrome. In add ition to the main clinical findings of the syndrome and other anomalie s less commonly described, we found skin angiomas, laryngeal strider w ith recurrent crisis of apnea and cyanosis, thickening of filum termin ale, sacrococcygeal lipoma, previously unreported. Autosomal dominant inheritance is well established, however the uncertainty concerning th e expression of this syndrome and its full phenotypic spectrum require s careful examination of patient's relatives in order to counsel genet ic risk.