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Newly recognized autosomal recessive faciothoracoskeletal syndrome

✍ Scribed by Richieri-Costa, A. ;Guion-Almeida, M. L. ;Lauris, J. R. P. ;Ferreira, D. M.

Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 386 KB
Volume: 49
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320490213

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## Abstract We describe three cases of a severe malformation syndrome in siblings of both sexes. The characteristic features observed were absent intrauterine ossification of an apparently normal cartilaginous spinal column; rib abnormalities, with unossified segments and posterior gaps; thoracic h