ArticleAmerican journal of medical genetics. Part A2018
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.
Article in American journal of medical genetics. Part A, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 19 citations in OpenAlex.
- A pilot clinical trial with losartan in Myhre syndrome.American journal of medical genetics. Part A · 2021Trial
- Acromelic dysplasias: similarities and differences in clinical and molecular findings in 12 Turkish patients.European journal of pediatrics · 2026Article
- Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).American journal of medical genetics. Part A · 2024Article
- Article
- A Second Family with Myhre Syndrome Caused by the Same RecurrentMolecular syndromology · 2023Article
- A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3-4.Molecular genetics & genomic medicine · 2023Review
- Natural history of Myhre syndrome.Orphanet journal of rare diseases · 2022Article
- Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation.Brazilian journal of cardiovascular surgery · 2021Article
- Myhre syndrome: the first case in Korea.Annals of pediatric endocrinology & metabolism · 2021Article
- Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome.Molecular syndromology · 2020Article
- A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.American journal of medical genetics. Part A · 2018Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.