We report on two new patients, the propositus and his maternal uncle, with Lujan-Fryns syndrome (LFS). One presented with mild mental retardation and both patient had Marfanoid habitus and similar craniofacial anomalies (they had a long and narrow face, small mandible, high-arched palate, and hypernasal voice) as previously reported by Lujan et al. in 1984 and Fryns and Buttiens in 1987. One of our patients had agenesis of the corpus callosum as described by Lujan. The second patient had an ascending aortic aneurysm like the patient described by Wittine et al. 1999. Both patients showed similar behavior and psychiatric disorders. In addition, we reviewed the literature for the presence of psychopathology in LFS. After studying the 32 published cases and the 2 described in this article, we found that more than 90% of the patients present with some type of psychopathology, the most frequent being an autistic-like disorder. In our opinion, the agenesis of the corpus callosum (complete or partial) and ascending aorta aneurysm are manifestations of LFS, and thus brain MRI and echocardiogram should be part of the routine evaluation. Additionally, the high prevalence of psychopathological alterations in these patients suggests the need for psychiatric evaluation at the time of diagnosis.
(c) 2006 Wiley-Liss, Inc.