Tricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant genetic disease, which is characterized by sparse hair, pear-shaped nose, partial cone-shaped epiphyses of the phalanges of the hand (foot) and brachydactyly. We reported a patient with short stature and special facial features who was admitted to Department of Pediatrics, First Affiliated Hospital, School of Medicine, Shihezi University on January 7, 2021, and diagnosed with TRPS and growth hormone deficiency finally, and performed a literature review. The clinical data, genetic test results and diagnostic process of the pediatric case were analyzed. The gene detection showed that the heterozygous frameshift mutation of TRPS1_ex6 c.2725dupT (p.Cys909Leufs^*42) was a new mutation, and defined as a pathogenic variant according to the American College of Medical Genetics and Genomics. The patient was treated with recombinant human growth hormone after the diagnosis, and was found with increased height without treatment-related side effects such as increased intracranial pressure and hypothyroidism during a 14-month follow-up.

毛发鼻指（趾）骨综合征（TRPS）是一种罕见的常染色体显性遗传病，其临床特征主要为毛发稀疏、梨状鼻、部分指（趾）骨锥形骨骺及短指畸形等。本文报道了1例因矮小、特殊面容于2021-01-07在石河子大学医学院第一附属医院儿科确诊为TRPS合并生长激素缺乏症的患儿，回顾性分析了患儿的临床资料及诊断过程，基因检测显示其TRPS1_ex6 c.2725dupT（p.Cys909Leufs^*42）杂合移码突变为新发变异，根据美国医学遗传学与基因组学会（ACMG）指南判读为致病变异，确诊为TRPS合并生长激素缺乏症，并给予重组人生长激素治疗，随访1年2个月发现，重组人生长激素治疗可以改善TRPS合并生长激素缺乏症患儿的身高，且未引起患儿颅内压增高、甲状腺功能减退等不良反应。