Trichorhinophalangeal syndrome as a diagnostic and therapeutic challenge for paediatric endocrinologists.

This report presents four cases of TRPS (three sporadic and one familial). Clinical presentation included typical facial features and vari-ous skeletal abnormalities. Some TRPS symptoms may mimic growth hormone deficiency and other endocrine disturbances. The aim of this article is to deliver TRPS symptomatology. The treatment of TRPS is symptomatic and supportive and requires the coordination of several specialists, including paediatricians, endocrinologists, orthopaedic surgeons, dermatologists, and medical rehabilitation and den-tal specialists. In some cases, recombinant growth hormone therapy may be necessary. Genetic counselling may be of benefit for affect-ed individuals and their families. PMID: 31343132 [PubMed - in process]
Source: Pediatric Endocrinology, Diabetes, and Metabolism - Category: Endocrinology Authors: Tags: Pediatr Endocrinol Diabetes Metab Source Type: research