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Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype.

Prenatal diagnosis - 1 Sept 2024

Jury Jeanne, Joubert Madeleine, Le Vaillant Claudine, Ghesh Leïla, Séguéla Pierre-Emmanuel, Bruel Ange-Line, Cogné Benjamin, Nizon Mathilde

Abstract excerpt

Myhre syndrome is a rare genetic disease caused by recurrent gain-of-function variants in SMAD4 (Ile500Thr, Ile500Val, Arg496Cys, and Ile500Met) characterized by postnatal short stature with pseudo-muscular build, joint stiffness, variable intellectual disability, hearing loss, and a distinctive pattern of dysmorphic facial features. The course can be severe in some cases, with life-threatening cardiac and...

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PMID: 39117582
DOI: 10.1002/pd.6642

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype.PMID 39117582Read ↗

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