A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot |
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| Authors: | Marianna Alagia Gerarda Cappuccio Michele Pinelli Annalaura Torella Raffaella Brunetti‐Pierri Francesca Simonelli Giuseppe Limongelli Guido Oppido Vincenzo Nigro Nicola Brunetti‐Pierri TUDP |
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| Affiliation: | 1. Department of Translational Medicine, Federico II University, Naples, Italy;2. Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy;3. Medical Genetics, Department of Biochemistry, Biophysics and General Pathology, University of Campania ‘Luigi Vanvitelli’, Naples, Italy;4. Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania ‘Luigi Vanvitelli’, Naples, Italy;5. Department of Cardiothoracic Science, University of Campania ‘Luigi Vanvitelli’, Naples, Italy;6. Monaldi Hospital, AO Colli, Naples, Italy |
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| Abstract: | ![]()
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 more evident in older patients. Therefore, the diagnosis of this syndrome in the first years of life is challenging. We report a 2‐year‐old girl diagnosed with Myhre syndrome by whole exome sequencing (WES) that revealed the recurrent p.Ile500Val mutation in the SMAD4 gene. Our patient presented with growth deficiency, dysmorphic features, tetralogy of Fallot, and corectopia (also known as ectopia pupillae). The girl we described is the youngest patient with Myhre syndrome. Moreover, corectopia and tetralogy of Fallot have not been previously reported in this disorder. |
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| Keywords: | corectopia Myhre syndrome tetralogy of Fallot WES |
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