A patient with ascending aortic dilatation, similar to phenotypes of connective tissue disorders

We report on the clinical and molecular findings of a pa - tient who presented alopecia, epicanthus, micrognathia, retrognathia, high arched palate, hypertelorism, Chiari type I malformation, mixed- type hearing loss but with normal heartbeat Q-T interval, malformed earlobes, down-slanted palpebral fissures, downturned corners of the mouth, syndactyly, atopic eczema, and seizures. The patient was a male adult, 23 years old, with short stature (153 cm) and low weight (50.5 kg), due to severe aortic insufficiency and dilatation of the as - cending aorta. Conventional cytogenetic screening did not show any chromosomal gains or losses. Molecular genetic screening was con- ducted for gene mutations involved in various syndromes; the muta- tions found included (β-fibrinogen -455 G>A wt/wt (wt/mut), PAI-1 4G/5G (4G/4G), HPA1 a/b (a/a), MTHFR C677T wt/wt (wt/mut),