Tricho-rhino-phalangeal Syndrome with Growth Hormone Deficiency: a Case Report and Literature Review

Abstract

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.

Keywords

• tricho-rhino-phalangeal syndrome|growth hormone deficiency|recombinant human growth hormone|short stature|genetic testing|case report