A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot
| Autor: | Raffaella Brunetti-Pierri, Vincenzo Nigro, Annalaura Torella, Guido Oppido, Nicola Brunetti-Pierri, Marianna Alagia, Gerarda Cappuccio, Giuseppe Limongelli, Francesca Simonelli, Michele Pinelli, Tudp |
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| Přispěvatelé: | Alagia, Marianna, Cappuccio, Gerarda, Pinelli, Michele, Torella, Annalaura, Brunetti-Pierri, Raffaella, Simonelli, Francesca, Limongelli, Giuseppe, Oppido, Guido, Nigro, Vincenzo, Brunetti-Pierri, Nicola, Brunetti Pierri, Raffaella |
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty 030105 genetics & heredity Short stature Clinical Reports Myhre syndrome 03 medical and health sciences Genetic Pupil Disorders Intellectual Disability Intellectual disability Cryptorchidism Exome Sequencing Genetics Medicine Missense mutation Humans Abnormalities Multiple Exome sequencing Genetics (clinical) Growth Disorders Tetralogy of Fallot Smad4 Protein Clinical Report corectopia business.industry Corectopia Facies medicine.disease Phenotype Child Preschool Mutation WES Female Ectopia pupillae medicine.symptom business Hand Deformities Congenital |
| Zdroj: | American Journal of Medical Genetics. Part a |
| ISSN: | 1552-4833 1552-4825 |
| Popis: | 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. 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. Wereport 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. |
| Databáze: | OpenAIRE |
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