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Phenotypic variability in Townes-Brocks syndrome

✍ Scribed by de Pina-Neto, João Monteiro ;Opitz, John M.

Publisher
John Wiley and Sons
Year
1984
Tongue
English
Weight
277 KB
Volume
18
Category
Article
ISSN
0148-7299

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✦ Synopsis

Abstract

This is a report on a child with sensorineural deafness, imperforate anus with rectovaginal fistula, hypoplastic thumb, and congenital heart defect. This pattern of congenital anomalies is similar to that described in patients with the Townes‐Brocks syndrome, although the present patient has characteristics that have not been reported previously in this syndrome. It is proposed that the clinical spectrum of the Townes‐Brocks syndrome must be extended to include congenital heart defect, auricular changes differing from those previously described, and anomalies of other internal organs. The syndrome is an autosomal dominant trait. The present case may represent a de novo mutation.

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✍ Yano, Shoji; Watanabe, Yoriko; Yoshino, Makoto; Aida, Katsumaro; Kato, Hirohisa 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 6 KB 👁 2 views

However, these patients did not have ear anomalies, anal lesions, or deafness suggestive of TBS or PS. Because PS is thought to be heterogeneous, the occurrence of the two syndromes together may constitute a contiguous gene syndrome in this particular case.