Acrofacial dysostosis syndrome type Rodriguez: a new lethal MCA syndrome.
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.
Petit
P
P
Center for Human Genetics, Leuven, Belgium.
Moerman
P
P
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000235:genetics*; D004413:Dysostoses / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome