Centre de Recherche Des Cordeliers, INSERM UMRS 1138 Team 22, Université de Paris, 75006, Paris, France.
Pediatric Emergency Department, AP-HP, Hôpital Universitaire Necker-Enfants Malades, 75015, Paris, France.
Orphanet J Rare Dis. 2022 Jul 30;17(1):304. doi: 10.1186/s13023-022-02447-x.
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.
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.
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.
Myhre syndrome is a progressive disease with severe multisystemic impairement and life-threathning complication requiring multidisciplinary monitoring.
Myhre 综合征（MS）是一种罕见的遗传性疾病，其特征为骨骼异常、面部特征和关节受限，由 SMAD4 基因突变引起。MS 的自然病史仍不完全清楚。
我们从法国罕见骨骼发育不良参考中心招募了经分子证实的 MS 患者进行纵向回顾性研究。我们通过将医疗报告、临床数据仓库、医学影像学和照片中的数据串联起来，描述了自然病史。
我们纳入了 12 名患者。中位年龄为 22 岁。一致报告存在宫内和出生后生长迟缓。在学龄前，80%的儿童存在神经发育障碍。特定的面部和骨骼特征、皮肤增厚和关节受限主要发生在学龄儿童。青春期以肺动脉高压（PAH）和血管狭窄的发生为标志。我们首次报告了 1 名患者在 26 岁时因烟雾病引起的复发性中风。2 名患者分别在青春期晚期和 20 多岁时死于 PAH 危象和肠系膜缺血。
Myhre 综合征是一种进行性疾病，存在严重的多系统损害和危及生命的并发症，需要多学科监测。
