| Literature DB >> 1640432 |
N Philip1, A Guala, A Moncla, M Monlouis, S Aymé, F Giraud.
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.Entities:
Mesh：
Year: 1992 PMID： 1640432 PMCID： PMC1016029
Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318