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

Karaca A., Taşkaldiran I., Omma T., ERSÖZ GÜLÇELİK N., Baştepe M.

Turkish Journal of Endocrinology and Metabolism, cilt.22, sa.2, 2018 (Scopus, TRDizin)

Özet

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 phenotype consistent with TRPS. In this patient with severe brachydactyly and short stature, we identified a novel heterozygous missense mutation in exon 6 (c.2782T