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Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome

✍ Scribed by Miny, Peter ;Lenz, Widukind ;Opitz, John M. ;Reynolds, James F.

Book ID: 102699442
Publisher: John Wiley and Sons
Year: 1985
Tongue: English
Weight: 515 KB
Volume: 21
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320210214

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✦ Synopsis

Abstract

We report on two sibs born to consanguineous parents with clinical and radiological features closely resembling those previously described by Insley and Astley [1974]. This observation provides further evidence for a distinct autosomal recessive condition with the facial appearance of Marshall syndrome, deafness, and skeletal dysplasia.

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