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7049416 
Journal Article 
AORTIC DISORDERS, FACIAL DYSMORPHISM AND MENTAL RETARDATION: CLINICAL FEATURES AND GENETIC CONDITIONS 
Yuan, S; , 
2013 
1 
Acta Medica Mediterranea
ISSN: 0393-6384
EISSN: 2283-9720 
CARBONE EDITORE 
PALERMO 
29 
4 
817-825 
WOS:000330151200037 
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, T beta R1 and T beta R11 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-beta 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. 
Aorta; connective tissue diseases; facial dysmorphism; mental retardation; rare diseases