title: Trichorhinophalangeal syndrome type I: a novel mutation and Perthes-like changes of the hip in a family with 4 cases over 3 generations.
abstract: The trichorhinophalangeal syndrome is a rare genetic syndrome with characteristic craniofacial and skeletal abnormalities including hip pathology in variable manifestation. We describe hip involvement with Perthes-like changes and a novel mutation of the TRPSI gene in a family with 4 affected individuals. This case series underlines the clinical significance of rare genetic disorders such as TRPS that among other differential diagnoses should be kept in mind when children present with Perthes-like changes of the hip joint.
authors.affiliation: *Department of Orthopedic Surgery †Institute of Human Genetics, Universitätsklinikum Düsseldorf, Düsseldorf, Germany.
authors.forename: Martin
authors.initials: M
authors.lastname: Hufeland
authors.forename: Nils
authors.initials: N
authors.lastname: Rahner
authors.forename: Rüdiger
authors.initials: R
authors.lastname: Krauspe
mesh_terms: D000015:Abnormalities, Multiple; D002675:Child, Preschool; D004268:DNA-Binding Proteins / Q000235:genetics*; D003937:Diagnosis, Differential; D005385:Fingers / Q000002:abnormalities*; D005820:Genetic Testing; D006201:Hair Diseases / Q000175:diagnosis / Q000235:genetics*; D006621:Hip Joint / Q000000981:diagnostic imaging*; D006801:Humans; D015826:Langer-Giedion Syndrome / Q000175:diagnosis / Q000235:genetics*; D007873:Legg-Calve-Perthes Disease / Q000175:diagnosis*; D008297:Male; D009154:Mutation; D009666:Nose / Q000002:abnormalities*; D010020:Osteonecrosis / Q000175:diagnosis; D010375:Pedigree; D011859:Radiography; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D012097:Repressor Proteins; C108387:TRPS1 protein, human; D014157:Transcription Factors