Cerebrofaciothoracic dysplasia: a new family.
N Philip, A Guala, A Moncla, M Monlouis… - Journal of medical …, 1992 - ncbi.nlm.nih.gov
N Philip, A Guala, A Moncla, M Monlouis, S Aymé, F Giraud
Journal of medical genetics, 1992•ncbi.nlm.nih.govWe 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.
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.
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.
ncbi.nlm.nih.gov
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