An Early Diagnosis of Trichorhinophalangeal Syndrome Type 1: A Case Report and Review of Literature
November 2018
in “
The Italian Journal of Pediatrics/Italian journal of pediatrics
”
TLDR Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
The document discussed the early diagnosis of Trichorhinophalangeal Syndrome Type 1 (TRPS1) through a case report of a 17-month-old girl and a review of the literature. TRPS1, a rare genetic disorder caused by mutations in the TRPS1 gene, is characterized by growth retardation, sparse hair, and distinctive craniofacial features. The case report highlighted the importance of thorough clinical examination and family history, supported by molecular genetic testing, for accurate diagnosis. Early diagnosis is crucial for effective management, which includes multidisciplinary care, regular growth assessments, potential growth hormone therapy, bone status evaluation, and genetic counseling. The review emphasized the need for clinician awareness to recognize and diagnose TRPS1 promptly.
