Chiu Annie T G, Zhu Lixing, Mok Gary T K, Leung Gordon K C, Chow C B, Chung Brian H Y
Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong.
Department of Paediatrics and Adolescent Medicine, HKU Shenzhen Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Shenzhen, China.
Eur J Med Genet. 2016 Nov;59(11):573-576. doi: 10.1016/j.ejmg.2016.10.001. Epub 2016 Oct 2.
Costello syndrome is a type of RASopathy mapped to HRAS gene in chromosome 11, characterized by prenatal overgrowth, postnatal failure to thrive, classic facial gestalt and multisystem involvement including cardiomyopathy and intellectual disability. We present a 7 months old child with severe failure to thrive whose "subtle" facial dysmorphism at the time eluded clinical recognition of the syndrome. It was only with optimization of his nutritional status that dysmorphic features became more apparent, which affirmed the molecular diagnosis of Costello syndrome from exome sequencing. The case illustrated how drastic failure to thrive can be in Costello syndrome, and how nutritional status can transform dysmorphic features in a child. It also highlights the importance of serial dysmorphic evaluation in difficult cases.
科斯特洛综合征是一种与11号染色体上的HRAS基因相关的RAS病，其特征为产前过度生长、产后生长发育迟缓、典型的面部形态以及多系统受累，包括心肌病和智力残疾。我们报告一名7个月大严重生长发育迟缓的患儿，其当时“轻微”的面部畸形未被临床识别为该综合征。仅在其营养状况得到改善后，畸形特征才变得更加明显，这通过外显子组测序证实了科斯特洛综合征的分子诊断。该病例说明了科斯特洛综合征中生长发育迟缓可能有多严重，以及营养状况如何改变儿童的畸形特征。它还强调了在疑难病例中进行系列畸形评估的重要性。
