Brancati Francesco, D'Avanzo Maria Gabriella, Digilio Maria Cristina, Sarkozy Anna, Biondi Massimo, De Brasi Davide, Mingarelli Rita, Dallapiccola Bruno
CSS Hospital, IRCCS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy.
Am J Med Genet A. 2004 Dec 1;131(2):144-9. doi: 10.1002/ajmg.a.30292.
KBG syndrome comprises a distinct facial phenotype, macrodontia, short stature, and skeletal anomalies. So far, it has been reported in 29 individuals. Recently, diagnostic criteria were outlined. Here, we describe eight new patients whose clinical and radiological findings fit the diagnostic criteria of KBG syndrome. While most patients were sporadic in occurrence, in two families the disorder was transmitted from mildly affected mothers to their affected children. The phenotype of KBG syndrome has been reviewed based on published and present patients. EEG anomalies with or without seizures, mixed hearing loss, palatal anomalies with secondary speech disorder, distinct age-related behavior, and cryptorchidism are possible additional characteristics. Less common manisfestations were posterior fossa malformations, eye defects, and congenital heart defects.
KBG综合征包括独特的面部表型、巨牙症、身材矮小和骨骼异常。到目前为止，已有29例病例报道。最近，制定了诊断标准。在此，我们描述了8例新患者，其临床和影像学表现符合KBG综合征的诊断标准。虽然大多数患者为散发病例，但在两个家族中，该疾病由症状较轻的母亲遗传给其患病子女。基于已发表病例及本文报道的患者，对KBG综合征的表型进行了综述。伴有或不伴有癫痫发作的脑电图异常、混合性听力损失、伴有继发性言语障碍的腭部异常、与年龄相关的独特行为以及隐睾症可能是其他特征。较少见的表现为后颅窝畸形、眼部缺陷和先天性心脏缺陷。
