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Acrofacial dysostosis syndrome type Rodriguez: a new lethal MCA syndrome
American Journal of Medical Genetics
|February 1, 1992
Abstract:
We present a female fetus with the lethal acrofacial dysostosis syndrome recently delineated by Rodriguez et al. [1990]. The present findings confirm that this syndrome constitutes a true MCA syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, the urogenital tract, heart, and lungs.