Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
Am J Med Genet A. 2010 Dec;152A(12):3138-42. doi: 10.1002/ajmg.a.33716.
IMAGe syndrome is a rare condition, first reported by Vilain et al., in 1999, characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. Patients with this condition may present shortly after birth with severe adrenal insufficiency, which can be life-threatening if not recognized early and commenced on steroid replacement therapy. Other reported features in this condition include, hypercalciuria and/or hypercalcemia, craniosynostosis, cleft palate, and scoliosis. We report on a 7-year-old boy with IMAGe syndrome, who in addition to the features in the acronym also has bilateral sensorineural hearing loss which has not been reported in previously published cases of IMAGe syndrome. We discuss the clinical presentation in our patient and review the literature in this rare multisystem disorder.
IMAGe 综合征是一种罕见的疾病，由 Vilain 等人于 1999 年首次报道，其特征为宫内生长受限、干骺端发育不良、先天性肾上腺发育不全和生殖器异常。患有这种疾病的患者可能在出生后不久就出现严重的肾上腺功能不全，如果早期未被发现并开始类固醇替代治疗，可能会危及生命。这种情况下还报告了其他一些特征，包括高钙尿症和/或高钙血症、颅缝早闭、腭裂和脊柱侧凸。我们报告了一例 7 岁男孩患有 IMAGe 综合征，除了缩写中的特征外，他还有双侧感音神经性听力损失，这在以前发表的 IMAGe 综合征病例中没有报道过。我们讨论了我们患者的临床表现，并回顾了这种罕见的多系统疾病的文献。
