𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Townes—Brocks syndrome in two mentally retarded youngsters

✍ Scribed by Cameron, Thomas H. ;Lachiewicz, Ave M. ;Aylsworth, Arthur S.


Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
381 KB
Volume
41
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Phenotypic variability in Townes-Brocks
✍ de Pina-Neto, João Monteiro ;Opitz, John M. 📂 Article 📅 1984 🏛 John Wiley and Sons 🌐 English ⚖ 277 KB 👁 1 views

## 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 patien

Townes-Brocks and Pendred syndrome in th
✍ 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.

Megalocornea and mental retardation synd
✍ Del Giudice, Ennio ;Sartorio, Renata ;Romano, Alfonso ;Carrozzo, Romeo ;Andria, 📂 Article 📅 1987 🏛 John Wiley and Sons 🌐 English ⚖ 217 KB 👁 2 views

We report on 2 patients with the Neuhauser megalocornea-mental retardation syndrome, a recessively inherited clinical entity of relatively recent description (McKusick 24931). A review of the few previous reported patients and our 2 patients shows that megalocornea and mental retardation are the 2 m