McGowan Ruth, Gulati Ramkumar, McHenry Pamela, Cooke Alexander, Butler Sandra, Keng Wee Teik, Murday Victoria, Whiteford Margo, Dikkers Frederik G, Sikkema-Raddatz Brigit, van Essen Ton, Tolmie John
Ferguson-Smith Dept. of Clinical Genetics, Yorkhill Hospital, Glasgow, UK.
Eur J Med Genet. 2011 Nov-Dec;54(6):e553-9. doi: 10.1016/j.ejmg.2011.07.001. Epub 2011 Jul 21.
We describe the clinical characteristics of 4 singleton cases, 3 males and 1 female, with Myhre Syndrome (OMIM 139210), who were born to non-consanguineous parents. Three cases had no family history of similarly affected individuals but 1 male's mother had short stature, some facial features suggestive of Myhre syndrome and evidence of skewed X-chromosome inactivation in her blood DNA. Short stature, deafness, learning difficulties, skeletal anomalies and facial dysmorphisms were evident in all cases. Arthralgia and stiff joints with limited movement were also present. The facial appearance, thickened skin, a 'muscular' habitus are memorable features. The female patient was least affected: this patient and one affected male displayed streaky skin with areas of patchy thickening, suggestive of genetic mosaicism. One patient developed sleep apnoea, a restrictive ventilatory defect and died following a choking episode. Another affected male developed recurrent, progressive, proximal, tracheal stenosis requiring partial tracheal resection, laser treatment and eventually tracheotomy. Review of Myhre syndrome patients in the literature and syndromes in the differential diagnosis, suggests heterogeneity in Myhre syndrome and clinical overlap with Laryngotracheal stenosis, Arthropathy, Prognathism and Short stature syndrome.
我们描述了4例单胎病例的临床特征，其中3例为男性，1例为女性，患有迈尔综合征（OMIM 139210），其父母非近亲结婚。3例无类似受累个体的家族史，但1例男性的母亲身材矮小，有一些提示迈尔综合征的面部特征，且其血液DNA存在X染色体失活偏斜的证据。所有病例均有身材矮小、耳聋、学习困难、骨骼异常和面部畸形。还存在关节痛和关节僵硬、活动受限的情况。面部外观、皮肤增厚、“肌肉型”体型是令人难忘的特征。女性患者受影响最小：该患者和1例受累男性表现出条纹状皮肤，伴有片状增厚区域，提示基因镶嵌现象。1例患者出现睡眠呼吸暂停、限制性通气缺陷，在一次窒息发作后死亡。另1例受累男性出现复发性、进行性、近端气管狭窄，需要进行部分气管切除术、激光治疗，最终进行气管切开术。对文献中迈尔综合征患者及鉴别诊断中的综合征进行回顾，提示迈尔综合征存在异质性，且与喉气管狭窄、关节病、突颌和身材矮小综合征存在临床重叠。
