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
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## 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
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.
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