Laura Krogh Herlin, Morten Krogh Herlin, Jenny Blechingberg, Kirsten Marthine Rønholt Stausholm, Lise Graversen, Sigrún Alba Jóhannesdóttir Schmidt, Mette Warming Jørgensen, Michel Bach Hellfritzsch, Jannie Dahl Hald, Signe Sparre Beck-Nielsen, Hans Gjørup, Brian Nauheimer Andersen, Pernille Axél Gregersen, Mette Sommerlund
Tricho-rhino-phalangeal syndrome (TRPS) is a rare malformation syndrome characterized by distinctive facial, ectodermal, and skeletal features. TRPS is divided into TRPS type I/III caused by pathogenic variants in TRPS1 and TRPS type II caused by contiguous gene deletions also spanning EXT1 and RAD21. Due to its rarity, knowledge of the clinical course of TRPS remains limited. Therefore, we collected and characterized a case series of 15 TRPS type I patients (median age at diagnosis 15 [interquartile range: 10-18] years, 11 females [73%]) seen at Aarhus University Hospital, Denmark, with a median follow-up period of 10 years...
April 2, 2024: European Journal of Medical Genetics