Abstract：
The ADNP-gene-related neurodevelopmental disorder Helsmoortel-Van der Aa syndrome is a rare syndromic-intellectual disability-an autism spectrum disorder first described by Helsmoortel and Van der Aa in 2014. Recently, a large cohort including 78 patients and their detailed phenotypes were presented by Van Dijck et al., 2019, who reported developmental delay, speech delay and autism spectrum disorder as nearly constant findings with or without variable cardiological, gastroenterological, urogenital, endocrine and neurological manifestations. Among cardiac malformations, atrial septal defect, patent ductus arteriosus, patent foramen ovale and mitral valve prolapse were the most common findings, but other unspecified defects, such as mild pulmonary valve stenosis, were also described. We present two patients with pathogenic ADNP variants and unusual cardiothoracic manifestations-Bland-White-Garland syndrome, pectus carinatum superiorly along the costochondral junctions and pectus excavatum inferiorly in one patient, and Kawasaki syndrome with pericardiac effusion, coronary artery dilatation and aneurysm in the other-who were successfully treated with intravenous immunoglobulin, corticosteroid and aspirin. Both patients had ectodermal and/or skeletal features overlapping those seen in RASopathies, supporting the observations of Alkhunaizi et al. 2018. on the clinical overlap between Helsmoortel-Van der Aa syndrome and Noonan syndrome. We observed a morphological overlap with the Noonan-like disorder with anagen hair in our patients.
摘要：
ADNP基因相关的神经发育障碍Helsmoortel-VanderAa综合征是一种罕见的综合征-智力障碍-一种自闭症谱系障碍，于2014年由Helsmoortel和VanderAa首次描述。最近,VanDijck等人介绍了一个包括78例患者及其详细表型的大型队列.,2019年，谁报告了发育迟缓，言语延迟和自闭症谱系障碍几乎是恒定的发现，有或没有可变的心脏病，胃肠病学,泌尿生殖系统,内分泌和神经表现。在心脏畸形中，房间隔缺损,动脉导管未闭,卵圆孔未闭和二尖瓣脱垂是最常见的发现,但是其他未指明的缺陷，如轻度肺动脉瓣狭窄，也有描述。我们介绍了两名具有致病性ADNP变异和异常心胸表现的患者-Bland-White-Garland综合征，在一名患者中，沿着肋软骨交界处上方的胸肌和下方的漏斗胸，和川崎综合征伴心包积液，冠状动脉扩张和动脉瘤的另一个-谁是成功的静脉注射免疫球蛋白治疗，皮质类固醇和阿司匹林。两名患者的外胚层和/或骨骼特征与放射病中的特征重叠，支持Alkhunaizi等人的观察。2018.关于Helsmoortel-VanderAa综合征和Noonan综合征的临床重叠。我们在患者中观察到与Noonan样疾病和长发的形态学重叠。
