David Dawei Yang, Marlene Rio, Caroline Michot, Nathalie Boddaert, Wael Yacoub, Nicolas Garcelon, Briac Thierry, Damien Bonnet, Sophie Rondeau, Dominique Herve, Stephanie Guey, Francois Angoulvant, Valerie Cormier‑Daire
Université de Paris. Hôpital Universitaire Necker-Enfants Malades. INSERM U. Hôpital Lariboisière.
France
Orphanet Journal of Rare Diseases
Orphanet J Rare Dis 2022; 17:
DOI: 10.1186/s13023-022-02447-x
Abstract
Background: Myhre syndrome (MS) is a rare genetic disease characterized by skeletal disorders, facial features and joint limitation, caused by a gain of function mutation in SMAD4 gene. The natural history of MS remains incompletely understood.
Methods: We recruited in a longitudinal retrospective study patients with molecular confirmed MS from the French reference center for rare skeletal dysplasia. We described natural history by chaining data from medical reports, clinical data warehouse, medical imaging and photographies.
Results: We included 12 patients. The median age was 22 years old (y/o). Intrauterine and postnatal growth retardation were consistently reported. In preschool age, neurodevelopment disorders were reported in 80% of children. Specifics facial and skeletal features, thickened skin and joint limitation occured mainly in school age children. The adolescence was marked by the occurrence of pulmonary arterial hypertension (PAH) and vascular stenosis. We reported for the first time recurrent strokes from the age of 26 y/o, caused by a moyamoya syndrome in one patient. Two patients died at late adolescence and in their 20 s respectively from PAH crises and mesenteric ischemia.
Conclusion: Myhre syndrome is a progressive disease with severe multisystemic impairement and life-threathning complication requiring multidisciplinary monitoring.
Category
Genetic Factors Associated with Pulmonary Vascular Disease
Class II. Pulmonary Hypertension Associated with Valvular Disease of the Left Side of the Heart
Class III. Pulmonary Hypertension Associated with Airway Disease, Apnea or Hypoventilation
Segmental Pulmonary Arterial Disease
Age Focus: Pediatric Pulmonary Vascular Disease or Adult Pulmonary Vascular Disease
Fresh or Filed Publication: Filed (PHiled). Greater than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes