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Newly Recognized Autosomal Recessive Faciothoracoskeletal Syndrome

Journal article published in 1994 by A. Richieri-Costa, A. Richiericosta, M. L. Guion-Almeida, M. L. Guionalmeida, Jrp R. P. Lauris, D. M. Ferreira ORCID
This paper was not found in any repository; the policy of its publisher is unknown or unclear.
This paper was not found in any repository; the policy of its publisher is unknown or unclear.

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Abstract

We report on 2 brothers, born to consanguineous parents presenting thin/long face, small ears, blepharophimosis, malar hypoplasia, long neck, pectus excavatum, brachy-camptodactyly, and sacral dimple. We suspect that these patients represent a previously undescribed autosomal recessive syndrome. (C) 1994 Wiley-Liss, Inc.