Article
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.
American journal of medical genetics. Part A - 1 Feb 2018
Alagia Marianna, Cappuccio Gerarda, Pinelli Michele, Torella Annalaura, Brunetti-Pierri Raffaella, Simonelli Francesca, Limongelli Giuseppe, Oppido Guido, Nigro Vincenzo, Brunetti-Pierri Nicola
Abstract excerpt
Myhre syndrome is a rare autosomal dominant disorder caused by a narrow spectrum of missense mutations in the SMAD4 gene. Typical features of this disorder are distinctive facial appearance, deafness, intellectual disability, cardiovascular abnormalities, short stature, short hands and feet, compact build, joint stiffness, and skeletal anomalies. The clinical features generally appear during childhood and become...
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