Deafness and the Laurence-Moon-Biedl Syndrome

Author:

Burn R. A.

Publisher

BMJ

Subject

Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology

Reference134 articles.

1. The first cases reported as a separate clinical entity were those of Laurence and Moon from

2. Horing (1864) and Stor (1865) had reported cases of retinitis pigmentosa combined with other anomalies which were probably unrecognized cases of the syndrome;Sorsbv, Avery; Cockayne,1935

3. THE LITERATURE SINCE 1937

4. The total number of cases reviewed by Cockayne and others (1935) and Sorsby and others (1939) up to 1937 was 178, distributed in 121 families. The corresponding figures for 1938-48 are 82 and 57, excluding a small number of reports which were unobtainable

5. Because of the inconstancy of expression in members of the same sibship cases have been accepted as belonging to the Laurence-Biedl group if they showed three of the five classical components of the syndrome. Doubtful cases have been included if there were records of other components occurring in relatives; for example, the case of Warkany and, Weaver,1940

Cited by 32 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Is hearing loss a feature of Joubert syndrome, a ciliopathy?;International Journal of Pediatric Otorhinolaryngology;2010-09

2. Visual Function in Laurence-Moon-Bardet-Biedl Syndrome A Survey of 26 Cases;Acta Ophthalmologica;2009-05-28

3. Ocular findings in the Laurence-Moon-Bardet-Biedl syndrome;Acta Ophthalmologica Scandinavica;2009-05-27

4. Otolaryngologic Features of Laurence-Moon-Bardet-Biedl Syndrome;Otolaryngology–Head and Neck Surgery;1999-04

5. Alström syndrome;Ophthalmology;1998-07

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