Townes-Brocks syndrome: A case report

Author(s): Baroncini, A., Ricci, G., Specchia, F., Tampieri, M., Comellini, L., Masi, M.

Journal/Book: Riv Ital Ped. 1995; 21: Via Della Gherardesca-Zona, Industriale, 56014 Ospedaletto Pisa, Italy. Pacini Editore. 889-892.

Abstract: The Authors describe a case of sporadic Townes-Brocks syndrome. In addition to the main clinical findings of the syndrome and other anomalies less commonly described, we found skin angiomas, laryngeal strider with recurrent crisis of apnea and cyanosis, thickening of filum terminale, sacrococcygeal lipoma, previously unreported. Autosomal dominant inheritance is well established, however the uncertainty concerning the expression of this syndrome and its full phenotypic spectrum requires careful examination of patient's relatives in order to counsel genetic risk.

Note: Article L Comellini, Osped Civile Imola, Div Pediat, Via Montericco 4, I-40026 Imola, Italy

Keyword(s): Townes-Brocks syndrome; imperforate anus; hearing loss; thumb abnormalities; external ear abnormalities; IMPERFORATE ANUS

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