Saeidi Minoo, Ehsanipoor Fahime
Department of Pediatrics, Isfahan University of Medical Sciences, Isfahan, Iran.
Department of Pediatrics, Iran University of Medical Sciences, Tehran, Iran.
Adv Biomed Res. 2017 Dec 28;6:167. doi: 10.4103/2277-9175.221861. eCollection 2017.
Adams-Oliver syndrome (AOS) is a rare congenital disorder with unknown etiology commonly presented with aplasia cutis and terminal limb defects. Central nervous and cardiopulmonary systems may also be affected. It is commonly inherited as an autosomal dominant disorder but autosomal recessive and sporadic cases have also been reported. Here, we present a 10-year-old boy with extensive aplasia cutis congenita and limb anomalies as well as mild pachygyria and focal acrania in neuroimaging. No other internal organ involvement was obvious in this patient. Family history was negative for this syndrome. AOS is a multisystem disorder, and so it is crucial to investigate for internal organ involvements.
亚当斯-奥利弗综合征（AOS）是一种病因不明的罕见先天性疾病，通常表现为皮肤发育不全和四肢末端缺陷。中枢神经系统和心肺系统也可能受到影响。它通常作为常染色体显性疾病遗传，但也有常染色体隐性和散发病例的报道。在此，我们报告一名10岁男孩，其患有广泛的先天性皮肤发育不全和肢体异常，神经影像学检查还显示有轻度脑回增厚和局部颅骨缺损。该患者无其他明显的内脏器官受累情况。该综合征的家族史为阴性。AOS是一种多系统疾病，因此对内脏器官受累情况进行检查至关重要。
