Aortic Disorders, Facial Dysmorphism and Mental Retardation: Clinical Featu- Res and Genetic Conditions

Objectives: The aim of the present article is to describe the clinical features and genetic conditions of the clinical syndromes/association characterized by facial dysmorphism, mental retardation, and aortic dilation, and compare with those of the syndromes with facial dysmorphism, mental retardation, and aortic stenosis. Methods: International literature of the syndromes characterized by facial dysmorphism, mental retardation and aortic dilation/stenosis published between 1980 and 2012 have been comprehensively retrieved. The clinical and genetic conditions were compared among different syndromes. Results: Aortic dilation in association with the facial changes and mental retardation suggested a Marfan-related connective tissue disorder in these patients who might have FBN1, FBN2, TβRI and TβRII gene mutations. Syndromes with facial dysmorphism, mental retardation and aortic stenosis prevail with chromosomal mutations and the patient’s typical clinical features like more slant eye fissures, short statue and sometimes mild intellectual disability. In this way, information in regard to the differential diagnoses is to be clarified. Conclusion: The association of facial dysmorphism and mental retardation, in particular in children, may lead us to the diagnostic consideration of an aortic disorder. The dilated aorta, in this association, may mean a weak aortic wall caused by connective tissue fragility, due to mutational disorders of specific genes, including TGF-β signaling or X chromosome genes. Whereas, the aortic stenosis when associated with facial dysmorphism and mental retardation implicate alternative genetic malformations, such as chromosomal mutation or microdeletion.