Abstract
We report two sisters with Neuhäuser [megalocornea, macrocephaly, mental and motor retardation MMMM] syndrome. They also had hypotonia, incomplete cleft palate, bifid uvula, depressed nasal bridge, epicanthal folds, hypoplastic labia major, micrognathia and pectus excavatum. Their brain magnetic resonance imaging showed cortical atrophy, large fourth ventricle and hypoplasia of corpus callosum. These findings have not been reported before in MMMM syndrome. Prenatal sonography could have been helpful if the mother had asked for genetic counseling given the presence of hypoplasia of corpus callosum and Dandy-Walker variant.
Copyright and license
Copyright © 2002 The Author(s). This is an open access article distributed under the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.