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Congenital macular colobomas and short-limb skeletal dysplasia

✍ Scribed by Smith, Richard D. ;Fineman, Robert M. ;Sillence, David O. ;Lester, Patric D. ;Nixon, G. William ;Rimoin, David L. ;Lachman, Ralph S. ;Opitz, John M.

Publisher
John Wiley and Sons
Year
1980
Tongue
English
Weight
529 KB
Volume
5
Category
Article
ISSN
0148-7299

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✦ Synopsis

Abstract

We report a previously undescribed association of severe short‐limbed dwarfism and macular colobomas with histological changes of cartilage resembling to some extent those of diastrophic dysplasia.

Chance occurrence of two rare disorders due to different causes is considered unlikely and the patient is presumed to have a syndrome of, as yet, unknown cause.

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