Connective tissue disorders

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

S. T. Onrat, Emmiler, M., Sıvacı, Y., Söylemez, Z., Özgöz, A., and Imirzalıoğlu, N., A patient with ascending aortic dilatation, similar to phenotypes of connective tissue disorders, vol. 8. pp. 426-434, 2009.

We report on the clinical and molecular findings of a patient 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 ascending aorta.

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