Tricorhinophalangeal Syndrome type 1: a novel variant and Perthes-like hip changes as first manifestation

We report a case of Trichorhinophalangeal syndrome type I (TRPS1) in a 16-year-old boy who was referred due to painless finger deformities over the last year. Legg-Calvé-Perthes disease (LGP) had been diagnosed at age 7 and required surgical treatment at age 12. Parents were healthy and non consangu...

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Bibliographic Details
Main Authors: Ivana Cardoso, Mariana Rodrigues, Ana Grangeia, Lina Melão, Francisca Aguiar, Gilberto Costa, Iva Brito
Format: Article
Language:English
Published: Sociedade Portuguesa de Reumatologia 2021-04-01
Series:Acta Reumatológica Portuguesa
Subjects:
Online Access:http://www.actareumatologica.com/files/article/1348_tricorhinophalangeal_syndrome_type_1_a_novel_variant_and_perthes_like_hip_changes_as_first_manifestation_file.pdf