Endocrinology Research and Practice
Poster Presentation

Tricho-Rhino-Phalangeal Syndrome is a Rare Presentation of Brachydactyly


Harvard University Faculty of Medicine, Massachusetts General Hospital, Endocrine Unit, Boston, USA


University of Health Sciences, Gülhane Training and Research Hospital, Clinic of Endocrinology, Ankara, Turkey

Endocrinol Res Pract 2018; 22: Supplement S65-S65
DOI: 10.25179/tjem.20182202-P204
Read: 742 Downloads: 225 Published: 01 June 2018


Mutations of TRPS1 cause tricho-rhino-phalangeal syndrome (TRPS), characterized by brachydactyly, sparse hair, and specific facial dysmorphism including a bulbous nose. Lab findings regarding parathormone, calcium and phosphate are normal.Thus, TRPS is usually mistaken for acrodysostosis types. The severity of brachidactyly is various, one or more metacarpals can be affected. Herein we report a Turkish female with phenotypeconsistent with TRPS. In this patient with severe brachydactyly and short stature, we identified a novel heterozygous missense mutation in exon 6 (c.2782T<G.p.Tyr928Asp). located within the GATA DNA-binding domain. These patients usually refer to dermatologist due to sparse hair. Brachydactyly is less noticed feature for patients. Our findings emphasize that physician should think all syndromes that can cause brachydactyly.

EISSN 2822-6135