Yumul Rhea Camille R, Chiong Mary Anne D
Department of Pediatrics, University of Santo Tomas Hospital, España Boulevard, Manila, Philippines.
Case Rep Genet. 2022 May 21;2022:3388879. doi: 10.1155/2022/3388879. eCollection 2022.
Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder characterized by dysmorphic facial features, broad thumbs and halluces, intellectual disability, and postnatal growth retardation. This report presents a male infant with microcephaly and characteristic facial features, namely, low anterior hairline, hirsutism, thin upper lip and micrognathia, broad thumbs and first toes, cryptorchidism, recurrent pneumonia, developmental delay, and growth retardation. Genetic testing showed a novel pathogenic variant in the gene which is consistent with the clinical diagnosis of RSTS.
鲁宾斯坦-泰比综合征（RSTS）是一种罕见的遗传性疾病，其特征为面部畸形、拇指和拇趾宽阔、智力残疾以及出生后生长发育迟缓。本报告介绍了一名患有小头畸形和特征性面部特征的男婴，具体表现为前额发际线低、多毛症、上唇薄和小颌畸形、拇指和第一趾宽阔、隐睾、反复肺炎、发育迟缓以及生长发育迟缓。基因检测显示该基因存在一种新的致病变异，这与RSTS的临床诊断相符。
