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Case Reports
. 1992 Jul;29(7):497-9.

Cerebrofaciothoracic dysplasia: a new family

N Philip  1 , A Guala, A Moncla, M Monlouis, S Aymé, F Giraud
Affiliations
Case Reports

Cerebrofaciothoracic dysplasia: a new family

N Philip et al. J Med Genet. 1992 Jul.

Abstract

We describe two brothers, born to consanguineous parents, who had facial dysmorphism, complex anomalies of the vertebrae and ribs, enlarged cerebral ventricles and septum pellucidum, mental retardation, and affable behaviour. The features are similar to those previously described in three unrelated children and may represent new cases of cerebrofaciothoracic dysplasia.

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