Department of Pediatrics, Pediatric Endocrinology and Diabetes, Medical University of Silesia, Katowice, Poland.
Clin Genet. 2010 Sep;78(3):227-35. doi: 10.1111/j.1399-0004.2010.01470.x. Epub 2010 May 22.
Adams-Oliver syndrome (AOS) is a rare genetic condition in which the main diagnostic criteria are terminal transverse limb defects and aplasia cutis congenita. Within the spectra of the clinical phenotype of AOS, anthropometric abnormalities have also been reported. We present growth pattern along with hormonal assays in three patients with AOS, one being treated with growth hormone (GH). In Patient 1 (a boy, age 1.9 years), with delayed psychomotor development, epilepsy, deficits of body mass and height, cryptorchidism, low insulin-like growth factor (IGF-1) levels were found and magnetic resonance imaging (MRI) revealed hypoplasia of midline structures of the central nervous system (CNS). In Patient 2 (a girl, age 3.6 years) no significant abnormalities in development, body mass, height or neuroimaging were found. In Patient 3 (a girl, age 8.2 years), with delayed psychomotor development and short stature, low IGF-1 levels and partial GH deficiency were found; MRI revealed small pituitary and polymicrogyria. The girl started GH treatment, improving height velocity and gross coordination. Based on these observations, it seems that intensity of auxologic and hormonal deficits in children with AOS is associated with CNS lesions. Hence, there are indications for neuroimaging and interdisciplinary follow-up of psychomotor development, growth and puberty in this subset of patients with AOS.
亚当斯-奥利弗综合征（AOS）是一种罕见的遗传性疾病，其主要诊断标准是末端横断肢体缺陷和先天性表皮发育不全。在 AOS 的临床表型谱中，也有报道称存在人体测量学异常。我们报告了 3 例 AOS 患者的生长模式和激素检测结果，其中 1 例接受了生长激素（GH）治疗。患者 1（男，1.9 岁）表现为精神运动发育迟缓、癫痫、体重和身高不足、隐睾、胰岛素样生长因子（IGF-1）水平低，磁共振成像（MRI）显示中枢神经系统（CNS）中线结构发育不良。患者 2（女，3.6 岁）无明显发育、体重、身高或神经影像学异常。患者 3（女，8.2 岁）表现为精神运动发育迟缓、身材矮小、IGF-1 水平低和部分 GH 缺乏；MRI 显示垂体小和多小脑回畸形。该女孩开始接受 GH 治疗，身高生长速度和大体协调能力得到改善。根据这些观察结果，AOS 患儿的生长和激素缺乏程度与 CNS 病变有关。因此，对于这组 AOS 患者，有神经影像学和精神运动发育、生长和青春期的跨学科随访的指征。
