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Ophthalmological, skeletal, and cardiac abnormalities in sibs born to consanguineous parents: A new syndrome?

✍ Scribed by dos Santos, Rita de Cassia Stocco ;Castro, Nelson H. C. ;Ferraz, Oilita Pereira ;Walter-Moura, Janete ;Mustachi, Zan ;Pagnan, Nina A. B. ;Gollop, Thomaz R.

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 294 KB
Volume: 43
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320430608

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✦ Synopsis

We report on a sibship from a consanguineous couple consisting of one boy with anophthalmia, one boy with buphthalmos and multiple congenital skeletal, muscle, and cardiac abnormalities, and a stillborn girl with anophthalmia and cardiac and skeletal abnormalities. A possible new syndrome of auto-soma1 recessive inheritance and variable expressivity is discussed, comparing this report with others.

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